20-62322153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322153
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322153
    reference: chr 20
allele count: 2
allele frequency: 3.606072626302694e-5
allele num: 55462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.593-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*16-5T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.929-5T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.293-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2486-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.149-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2414-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2499-5T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2414-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2414-5T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2414-5T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2414-5T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

20-62322165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322165
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322165
    reference: chr 20
allele count: 1
allele frequency: 1.572524845892565e-5
allele num: 63592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2421A>G
  hgvsp: ENST00000482936.1:c.2421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2506A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.156A>G
  hgvsp: ENST00000370003.1:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.600A>G
  hgvsp: ENST00000425905.1:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2421A>G
  hgvsp: ENST00000318100.4:c.2421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2421A>G
  hgvsp: ENST00000370018.3:c.2421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.300A>G
  hgvsp: ENST00000496816.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2421A>G
  hgvsp: ENST00000360203.5:c.2421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.936A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2493A>G
  hgvsp: ENST00000508582.2:c.2493A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*23A>G
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro831Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

20-62322171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322171
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322171
    reference: chr 20
allele count: 1
allele frequency: 1.512355948095944e-5
allele num: 66122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2427C>T
  hgvsp: ENST00000318100.4:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.306C>T
  hgvsp: ENST00000496816.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.162C>T
  hgvsp: ENST00000370003.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.606C>T
  hgvsp: ENST00000425905.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2427C>T
  hgvsp: ENST00000370018.3:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2427C>T
  hgvsp: ENST00000482936.1:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.942C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2499C>T
  hgvsp: ENST00000508582.2:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2512C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2427C>T
  hgvsp: ENST00000360203.5:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala833Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

20-62322172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322172
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322172
    reference: chr 20
allele count: 15
allele frequency: 2.222024708914763e-4
allele num: 67506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2428G>A
  hgvsp: ENSP00000457868.1:p.Gly810Arg
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2428G>A
  hgvsp: ENSP00000322287.4:p.Gly810Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.163G>A
  hgvsp: ENSP00000359020.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.607G>A
  hgvsp: ENSP00000388063.1:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2513G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.307G>A
  hgvsp: ENSP00000425576.1:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2428G>A
  hgvsp: ENSP00000353332.5:p.Gly810Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2500G>A
  hgvsp: ENSP00000424307.2:p.Gly834Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2428G>A
  hgvsp: ENSP00000359035.3:p.Gly810Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.943G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21840
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22897
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly834Arg
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

20-62322174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322174
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322174
    reference: chr 20
allele count: 1
allele frequency: 1.461860070754027e-5
allele num: 68406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*32G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.945G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2430G>A
  hgvsp: ENST00000360203.5:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2515G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.609G>A
  hgvsp: ENST00000425905.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2502G>A
  hgvsp: ENST00000508582.2:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2430G>A
  hgvsp: ENST00000370018.3:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2430G>A
  hgvsp: ENST00000318100.4:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.165G>A
  hgvsp: ENST00000370003.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2430G>A
  hgvsp: ENST00000482936.1:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.309G>A
  hgvsp: ENST00000496816.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22065
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly834Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

20-62322180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322180
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322180
    reference: chr 20
allele count: 6
allele frequency: 8.625398924700268e-5
allele num: 69562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2436C>T
  hgvsp: ENST00000370018.3:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*38C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2508C>T
  hgvsp: ENST00000508582.2:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.615C>T
  hgvsp: ENST00000425905.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2436C>T
  hgvsp: ENST00000360203.5:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2436C>T
  hgvsp: ENST00000482936.1:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2521C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.315C>T
  hgvsp: ENST00000496816.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.171C>T
  hgvsp: ENST00000370003.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.951C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2436C>T
  hgvsp: ENST00000318100.4:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22225
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22023
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro836Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

20-62322181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322181
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322181
    reference: chr 20
allele count: 2
allele frequency: 2.85363696030591e-5
allele num: 70086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.952G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2437G>A
  hgvsp: ENSP00000353332.5:p.Glu813Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.616G>A
  hgvsp: ENSP00000388063.1:p.Glu206Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.316G>A
  hgvsp: ENSP00000425576.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2522G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2509G>A
  hgvsp: ENSP00000424307.2:p.Glu837Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2437G>A
  hgvsp: ENSP00000322287.4:p.Glu813Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.172G>A
  hgvsp: ENSP00000359020.1:p.Glu58Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2437G>A
  hgvsp: ENSP00000457868.1:p.Glu813Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2437G>A
  hgvsp: ENSP00000359035.3:p.Glu813Lys
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22478
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu837Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-62322182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322182
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322182
    reference: chr 20
allele count: 1
allele frequency: 1.418801963621918e-5
allele num: 70482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.173A>G
  hgvsp: ENSP00000359020.1:p.Glu58Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.317A>G
  hgvsp: ENSP00000425576.1:p.Glu106Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2523A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*40A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2438A>G
  hgvsp: ENSP00000359035.3:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.953A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2510A>G
  hgvsp: ENSP00000424307.2:p.Glu837Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2438A>G
  hgvsp: ENSP00000322287.4:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2438A>G
  hgvsp: ENSP00000353332.5:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2438A>G
  hgvsp: ENSP00000457868.1:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.617A>G
  hgvsp: ENSP00000388063.1:p.Glu206Gly
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu837Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

20-62322188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322188
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322188
    reference: chr 20
allele count: 126
allele frequency: 1.774048209056094e-3
allele num: 71024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.623G>T
  hgvsp: ENSP00000388063.1:p.Ser208Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2529G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2444G>T
  hgvsp: ENSP00000322287.4:p.Ser815Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.323G>T
  hgvsp: ENSP00000425576.1:p.Ser108Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.179G>T
  hgvsp: ENSP00000359020.1:p.Ser60Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2444G>T
  hgvsp: ENSP00000353332.5:p.Ser815Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2444G>T
  hgvsp: ENSP00000457868.1:p.Ser815Ile
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2516G>T
  hgvsp: ENSP00000424307.2:p.Ser839Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2444G>T
  hgvsp: ENSP00000359035.3:p.Ser815Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.959G>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21843
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser839Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

20-62322194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322194
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322194
    reference: chr 20
allele count: 1
allele frequency: 1.424339106654512e-5
allele num: 70208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2522G>A
  hgvsp: ENSP00000424307.2:p.Cys841Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2450G>A
  hgvsp: ENSP00000353332.5:p.Cys817Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.185G>A
  hgvsp: ENSP00000359020.1:p.Cys62Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.629G>A
  hgvsp: ENSP00000388063.1:p.Cys210Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2535G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2450G>A
  hgvsp: ENSP00000359035.3:p.Cys817Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2450G>A
  hgvsp: ENSP00000457868.1:p.Cys817Tyr
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2450G>A
  hgvsp: ENSP00000322287.4:p.Cys817Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*52G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.329G>A
  hgvsp: ENSP00000425576.1:p.Cys110Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.965G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys841Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

20-62322199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322199
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322199
    reference: chr 20
allele count: 1
allele frequency: 1.442002653284882e-5
allele num: 69348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.334G>A
  hgvsp: ENSP00000425576.1:p.Glu112Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2455G>A
  hgvsp: ENSP00000359035.3:p.Glu819Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.190G>A
  hgvsp: ENSP00000359020.1:p.Glu64Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2455G>A
  hgvsp: ENSP00000322287.4:p.Glu819Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2527G>A
  hgvsp: ENSP00000424307.2:p.Glu843Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.970G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2455G>A
  hgvsp: ENSP00000353332.5:p.Glu819Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.634G>A
  hgvsp: ENSP00000388063.1:p.Glu212Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2455G>A
  hgvsp: ENSP00000457868.1:p.Glu819Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*57G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2540G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu843Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

20-62322204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322204
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322204
    reference: chr 20
allele count: 2
allele frequency: 2.943687262665214e-5
allele num: 67942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2460T>C
  hgvsp: ENST00000360203.5:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2532T>C
  hgvsp: ENST00000508582.2:c.2532T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.639T>C
  hgvsp: ENST00000425905.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.195T>C
  hgvsp: ENST00000370003.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2460T>C
  hgvsp: ENST00000482936.1:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2460T>C
  hgvsp: ENST00000370018.3:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.339T>C
  hgvsp: ENST00000496816.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2460T>C
  hgvsp: ENST00000318100.4:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.975T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2545T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*62T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17587
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr844Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

20-62322214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322214
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322214
    reference: chr 20
allele count: 20
allele frequency: 3.195500734965169e-4
allele num: 62588
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2542C>T
  hgvsp: ENSP00000424307.2:p.Pro848Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2470C>T
  hgvsp: ENSP00000322287.4:p.Pro824Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2470C>T
  hgvsp: ENSP00000359035.3:p.Pro824Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2555C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2470C>T
  hgvsp: ENSP00000457868.1:p.Pro824Ser
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.349C>T
  hgvsp: ENSP00000425576.1:p.Pro117Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*72C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2470C>T
  hgvsp: ENSP00000353332.5:p.Pro824Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.205C>T
  hgvsp: ENSP00000359020.1:p.Pro69Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.649C>T
  hgvsp: ENSP00000388063.1:p.Pro217Ser
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.985C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11259
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro848Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-62322215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322215
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322215
    reference: chr 20
allele count: 2
allele frequency: 3.192746080904186e-5
allele num: 62642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*73C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.986C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.350C>A
  hgvsp: ENSP00000425576.1:p.Pro117Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2556C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2471C>A
  hgvsp: ENSP00000322287.4:p.Pro824Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2471C>A
  hgvsp: ENSP00000457868.1:p.Pro824Gln
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2471C>A
  hgvsp: ENSP00000353332.5:p.Pro824Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.650C>A
  hgvsp: ENSP00000388063.1:p.Pro217Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2543C>A
  hgvsp: ENSP00000424307.2:p.Pro848Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.206C>A
  hgvsp: ENSP00000359020.1:p.Pro69Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2471C>A
  hgvsp: ENSP00000359035.3:p.Pro824Gln
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro848Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

20-62322218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322218
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322218
    reference: chr 20
allele count: 15
allele frequency: 2.437201442823254e-4
allele num: 61546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2474T>C
  hgvsp: ENSP00000359035.3:p.Val825Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2559T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2546T>C
  hgvsp: ENSP00000424307.2:p.Val849Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2474T>C
  hgvsp: ENSP00000353332.5:p.Val825Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*76T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2474T>C
  hgvsp: ENSP00000322287.4:p.Val825Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.653T>C
  hgvsp: ENSP00000388063.1:p.Val218Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.353T>C
  hgvsp: ENSP00000425576.1:p.Val118Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.209T>C
  hgvsp: ENSP00000359020.1:p.Val70Ala
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2474T>C
  hgvsp: ENSP00000457868.1:p.Val825Ala
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.989T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val849Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-62322224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322224
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322224
    reference: chr 20
allele count: 1
allele frequency: 1.716797143249554e-5
allele num: 58248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2480C>T
  hgvsp: ENSP00000353332.5:p.Ala827Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.659C>T
  hgvsp: ENSP00000388063.1:p.Ala220Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.359C>T
  hgvsp: ENSP00000425576.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.995C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2552C>T
  hgvsp: ENSP00000424307.2:p.Ala851Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2480C>T
  hgvsp: ENSP00000457868.1:p.Ala827Val
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.215C>T
  hgvsp: ENSP00000359020.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2480C>T
  hgvsp: ENSP00000359035.3:p.Ala827Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2480C>T
  hgvsp: ENSP00000322287.4:p.Ala827Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2565C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*82C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala851Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

20-62322226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322226
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322226
    reference: chr 20
allele count: 2
allele frequency: 3.515803536898358e-5
allele num: 56886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.661C>T
  hgvsp: ENSP00000388063.1:p.Arg221Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.997C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2482C>T
  hgvsp: ENSP00000359035.3:p.Arg828Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.361C>T
  hgvsp: ENSP00000425576.1:p.Arg121Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.217C>T
  hgvsp: ENSP00000359020.1:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2482C>T
  hgvsp: ENSP00000457868.1:p.Arg828Trp
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2554C>T
  hgvsp: ENSP00000424307.2:p.Arg852Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2482C>T
  hgvsp: ENSP00000353332.5:p.Arg828Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2567C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*84C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2482C>T
  hgvsp: ENSP00000322287.4:p.Arg828Trp
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg852Trp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

20-62322227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322227
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322227
    reference: chr 20
allele count: 4
allele frequency: 7.058906575371475e-5
allele num: 56666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2555G>A
  hgvsp: ENSP00000424307.2:p.Arg852Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.218G>A
  hgvsp: ENSP00000359020.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*85G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.362G>A
  hgvsp: ENSP00000425576.1:p.Arg121Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2483G>A
  hgvsp: ENSP00000359035.3:p.Arg828Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2483G>A
  hgvsp: ENSP00000353332.5:p.Arg828Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.998G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.662G>A
  hgvsp: ENSP00000388063.1:p.Arg221Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2483G>A
  hgvsp: ENSP00000457868.1:p.Arg828Gln
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2483G>A
  hgvsp: ENSP00000322287.4:p.Arg828Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2568G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg852Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

20-62322228-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322228
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322228
    reference: chr 20
allele count: 1
allele frequency: 1.784567064030266e-5
allele num: 56036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.363G>T
  hgvsp: ENST00000496816.1:c.363G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.219G>T
  hgvsp: ENST00000370003.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2484G>T
  hgvsp: ENST00000482936.1:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2484G>T
  hgvsp: ENST00000318100.4:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.663G>T
  hgvsp: ENST00000425905.1:c.663G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2569G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2484G>T
  hgvsp: ENST00000360203.5:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2556G>T
  hgvsp: ENST00000508582.2:c.2556G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*86G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2484G>T
  hgvsp: ENST00000370018.3:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.999G>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg852Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-62322238-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322238
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322238
    reference: chr 20
allele count: 1
allele frequency: 1.946131091390316e-5
allele num: 51384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2494A>C
  hgvsp: ENST00000360203.5:c.2494A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.229A>C
  hgvsp: ENST00000370003.1:c.229A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2494A>C
  hgvsp: ENST00000370018.3:c.2494A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*96A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2566A>C
  hgvsp: ENST00000508582.2:c.2566A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2494A>C
  hgvsp: ENST00000318100.4:c.2494A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.373A>C
  hgvsp: ENST00000496816.1:c.373A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2494A>C
  hgvsp: ENST00000482936.1:c.2494A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2579A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1009A>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg856Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

20-62322244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322244
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322244
    reference: chr 20
allele count: 1
allele frequency: 2.094416286181041e-5
allele num: 47746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2572C>T
  hgvsp: ENST00000508582.2:c.2572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.235C>T
  hgvsp: ENST00000370003.1:c.235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2585C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2500C>T
  hgvsp: ENST00000360203.5:c.2500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1015C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2500C>T
  hgvsp: ENST00000370018.3:c.2500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2500C>T
  hgvsp: ENST00000318100.4:c.2500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.379C>T
  hgvsp: ENST00000496816.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2500C>T
  hgvsp: ENST00000482936.1:c.2500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*102C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu858Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

20-62322251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322251
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322251
    reference: chr 20
allele count: 1
allele frequency: 2.274588299517787e-5
allele num: 43964
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2507C>G
  hgvsp: ENSP00000457868.1:p.Ala836Gly
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2592C>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.242C>G
  hgvsp: ENSP00000359020.1:p.Ala81Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1022C>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2579C>G
  hgvsp: ENSP00000424307.2:p.Ala860Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2507C>G
  hgvsp: ENSP00000353332.5:p.Ala836Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.386C>G
  hgvsp: ENSP00000425576.1:p.Ala129Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2507C>G
  hgvsp: ENSP00000322287.4:p.Ala836Gly
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*109C>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2507C>G
  hgvsp: ENSP00000359035.3:p.Ala836Gly
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14391
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala860Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-62322252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322252
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322252
    reference: chr 20
allele count: 5
allele frequency: 1.148263825096454e-4
allele num: 43544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.243C>T
  hgvsp: ENST00000370003.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2508C>T
  hgvsp: ENST00000318100.4:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2508C>T
  hgvsp: ENST00000370018.3:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2508C>T
  hgvsp: ENST00000360203.5:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2593C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2508C>T
  hgvsp: ENST00000482936.1:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.387C>T
  hgvsp: ENST00000496816.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1023C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*110C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2580C>T
  hgvsp: ENST00000508582.2:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15065
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala860Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

20-62322253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322253
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322253
    reference: chr 20
allele count: 2
allele frequency: 4.662874195654201e-5
allele num: 42892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*111G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.244G>A
  hgvsp: ENSP00000359020.1:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2509G>A
  hgvsp: ENSP00000457868.1:p.Ala837Thr
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.388G>A
  hgvsp: ENSP00000425576.1:p.Ala130Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2509G>A
  hgvsp: ENSP00000353332.5:p.Ala837Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2594G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2509G>A
  hgvsp: ENSP00000322287.4:p.Ala837Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2509G>A
  hgvsp: ENSP00000359035.3:p.Ala837Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1024G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2581G>A
  hgvsp: ENSP00000424307.2:p.Ala861Thr
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala861Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-62322259-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322259
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322259
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 40408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2515G>T
  hgvsp: ENSP00000457868.1:p.Glu839Ter
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2515G>T
  hgvsp: ENSP00000322287.4:p.Glu839Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2600G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2515G>T
  hgvsp: ENSP00000359035.3:p.Glu839Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.250G>T
  hgvsp: ENSP00000359020.1:p.Glu84Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2587G>T
  hgvsp: ENSP00000424307.2:p.Glu863Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1030G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2515G>T
  hgvsp: ENSP00000353332.5:p.Glu839Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.394G>T
  hgvsp: ENSP00000425576.1:p.Glu132Ter
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*117G>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu863Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-62322267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322267
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322267
    reference: chr 20
allele count: 13
allele frequency: 3.812316715542522e-4
allele num: 34100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*125C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2523C>T
  hgvsp: ENST00000482936.1:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2608C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2595C>T
  hgvsp: ENST00000508582.2:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.258C>T
  hgvsp: ENST00000370003.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1038C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.402C>T
  hgvsp: ENST00000496816.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2523C>T
  hgvsp: ENST00000360203.5:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2523C>T
  hgvsp: ENST00000370018.3:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2523C>T
  hgvsp: ENST00000318100.4:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20328
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser865Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

20-62322274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322274
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322274
    reference: chr 20
allele count: 4
allele frequency: 1.363419455995637e-4
allele num: 29338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1045C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2530C>T
  hgvsp: ENSP00000359035.3:p.Arg844Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*132C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2530C>T
  hgvsp: ENSP00000322287.4:p.Arg844Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.265C>T
  hgvsp: ENSP00000359020.1:p.Arg89Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2530C>T
  hgvsp: ENSP00000353332.5:p.Arg844Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2530C>T
  hgvsp: ENSP00000457868.1:p.Arg844Trp
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.409C>T
  hgvsp: ENSP00000425576.1:p.Arg137Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2602C>T
  hgvsp: ENSP00000424307.2:p.Arg868Trp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2615C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20882
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg868Trp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

20-62322275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322275
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322275
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 28988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2531G>A
  hgvsp: ENSP00000457868.1:p.Arg844Gln
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2531G>A
  hgvsp: ENSP00000322287.4:p.Arg844Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*133G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2531G>A
  hgvsp: ENSP00000359035.3:p.Arg844Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.410G>A
  hgvsp: ENSP00000425576.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2616G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2603G>A
  hgvsp: ENSP00000424307.2:p.Arg868Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.266G>A
  hgvsp: ENSP00000359020.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1046G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2531G>A
  hgvsp: ENSP00000353332.5:p.Arg844Gln
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20980
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg868Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

20-62322278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322278
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322278
    reference: chr 20
allele count: 3
allele frequency: 1.191232528589581e-4
allele num: 25184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2534C>T
  hgvsp: ENSP00000353332.5:p.Ala845Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2534C>T
  hgvsp: ENSP00000457868.1:p.Ala845Val
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2534C>T
  hgvsp: ENSP00000359035.3:p.Ala845Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*136C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.269C>T
  hgvsp: ENSP00000359020.1:p.Ala90Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.413C>T
  hgvsp: ENSP00000425576.1:p.Ala138Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2534C>T
  hgvsp: ENSP00000322287.4:p.Ala845Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2619C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2606C>T
  hgvsp: ENSP00000424307.2:p.Ala869Val
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1049C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala869Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

20-62322279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322279
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322279
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 25050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2535G>A
  hgvsp: ENST00000360203.5:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.414G>A
  hgvsp: ENST00000496816.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2535G>A
  hgvsp: ENST00000482936.1:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2535G>A
  hgvsp: ENST00000370018.3:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2607G>A
  hgvsp: ENST00000508582.2:c.2607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2620G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.270G>A
  hgvsp: ENST00000370003.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*137G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1050G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2535G>A
  hgvsp: ENST00000318100.4:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19709
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala869Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

20-62322288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322288
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322288
    reference: chr 20
allele count: 20101
allele frequency: 7.65285920962461e-1
allele num: 26266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2544T>C
  hgvsp: ENST00000482936.1:c.2544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.423T>C
  hgvsp: ENST00000496816.1:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*146T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2544T>C
  hgvsp: ENST00000360203.5:c.2544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2616T>C
  hgvsp: ENST00000508582.2:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1059T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.279T>C
  hgvsp: ENST00000370003.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2544T>C
  hgvsp: ENST00000318100.4:c.2544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2544T>C
  hgvsp: ENST00000370018.3:c.2544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2629T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.25e1
  variant carriers: 3954
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 976
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 1205
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 1209
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.5e0
  variant carriers: 8483
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 1125
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 7.5e0
  variant carriers: 18376
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 1015
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 683
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 1158
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 1505
hgvs: p.Pro872Pro
num of homozygotes: 7710
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

20-62322290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322290
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322290
    reference: chr 20
allele count: 249
allele frequency: 1.30202886425434e-2
allele num: 19124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1061G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2546G>A
  hgvsp: ENSP00000353332.5:p.Gly849Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2546G>A
  hgvsp: ENSP00000457868.1:p.Gly849Asp
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2546G>A
  hgvsp: ENSP00000359035.3:p.Gly849Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.425G>A
  hgvsp: ENSP00000425576.1:p.Gly142Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*148G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2546G>A
  hgvsp: ENSP00000322287.4:p.Gly849Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.281G>A
  hgvsp: ENSP00000359020.1:p.Gly94Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2631G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2618G>A
  hgvsp: ENSP00000424307.2:p.Gly873Asp
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 32858
  bin: 2.5e0
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 7.5e0
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 2
hgvs: p.Gly873Asp
num of homozygotes: 4
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

20-62322291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322291
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322291
    reference: chr 20
allele count: 1
allele frequency: 5.318583129454313e-5
allele num: 18802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1062C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.282C>T
  hgvsp: ENST00000370003.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2632C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*149C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2547C>T
  hgvsp: ENST00000482936.1:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.426C>T
  hgvsp: ENST00000496816.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2547C>T
  hgvsp: ENST00000370018.3:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2547C>T
  hgvsp: ENST00000318100.4:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2619C>T
  hgvsp: ENST00000508582.2:c.2619C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2547C>T
  hgvsp: ENST00000360203.5:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33362
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly873Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

20-62322292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322292
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322292
    reference: chr 20
allele count: 1
allele frequency: 5.381552039608223e-5
allele num: 18582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2548G>A
  hgvsp: ENSP00000457868.1:p.Glu850Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2548G>A
  hgvsp: ENSP00000359035.3:p.Glu850Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2620G>A
  hgvsp: ENSP00000424307.2:p.Glu874Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.427G>A
  hgvsp: ENSP00000425576.1:p.Glu143Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1063G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2633G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2548G>A
  hgvsp: ENSP00000322287.4:p.Glu850Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.283G>A
  hgvsp: ENSP00000359020.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*150G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2548G>A
  hgvsp: ENSP00000353332.5:p.Glu850Lys
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu874Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

20-62322297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322297
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322297
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2553G>A
  hgvsp: ENST00000360203.5:c.2553G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2625G>A
  hgvsp: ENST00000508582.2:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.288G>A
  hgvsp: ENST00000370003.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.432G>A
  hgvsp: ENST00000496816.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2553G>A
  hgvsp: ENST00000482936.1:c.2553G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2553G>A
  hgvsp: ENST00000318100.4:c.2553G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2553G>A
  hgvsp: ENST00000370018.3:c.2553G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1068G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2638G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*155G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34250
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu875Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-62322304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322304
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322304
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 16928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.435+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2556+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2556+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2628+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2641+4C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2556+4C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.291+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1071+4C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2556+4C>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*158+4C>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34105
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2556+4C>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-62322320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322320
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322320
    reference: chr 20
allele count: 3
allele frequency: 1.916687963199591e-4
allele num: 15652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2628+20G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.435+20G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.291+20G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*158+20G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2556+20G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2556+20G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2641+20G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1071+20G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2556+20G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2556+20G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31470
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

20-62322322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322322
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322322
    reference: chr 20
allele count: 1
allele frequency: 6.444129398118315e-5
allele num: 15518
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2628+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2556+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2556+22A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2556+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.291+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.435+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2641+22A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2556+22A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*158+22A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1071+22A>G
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

20-62322329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322329
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322329
    reference: chr 20
allele count: 1
allele frequency: 6.664001066240171e-5
allele num: 15006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2628+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2556+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2556+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2556+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2556+29C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.435+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2641+29C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1071+29C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.291+29C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*158+29C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

20-62322343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62322343
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62322343
    reference: chr 20
allele count: 27
allele frequency: 1.961924138933294e-3
allele num: 13762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2556+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*158+43C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2556+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.435+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.291+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1071+43C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2556+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2628+43C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2556+43C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2641+43C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26967
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

20-62323047-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323047
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323045
    reference: chr 20
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-42_2557-41delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-42_2557-41delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-42_2642-41delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-42_*159-41delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-42_292-41delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-42_1072-41delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-42_2629-41delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-42_2557-41delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-42_436-41delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-42_2557-41delTG
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AGT
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-62323048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323048
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323048
    reference: chr 20
allele count: 4
allele frequency: 3.35418518456404e-5
allele num: 119254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-47G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-47G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-47G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-47G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-47G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5855
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-62323054-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323054
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323054
    reference: chr 20
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-41G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-41G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-41G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-41G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-41G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-41G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-41G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-41G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-41G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-41G>T
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

20-62323055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323055
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323055
    reference: chr 20
allele count: 1
allele frequency: 8.383775717232013e-6
allele num: 119278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-40G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-40G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-40G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-40G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-40G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

20-62323055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323055
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323055
    reference: chr 20
allele count: 1
allele frequency: 8.383775717232013e-6
allele num: 119278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-40G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-40G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-40G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-40G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-40G>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-62323056-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323056
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323056
    reference: chr 20
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-39T>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-39T>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-39T>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-39T>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-39T>G
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

20-62323057-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323057
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323056
    reference: chr 20
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-34delG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-34delG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-34delG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-34delG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-34delG
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: TG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

20-62323060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323060
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323060
    reference: chr 20
allele count: 1
allele frequency: 8.381105635455429e-6
allele num: 119316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-35G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-35G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-35G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-35G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-35G>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

20-62323061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323061
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323061
    reference: chr 20
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-34G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-34G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-34G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-34G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-34G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-62323063-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323063
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323061
    reference: chr 20
allele count: 1
allele frequency: 8.381105635455429e-6
allele num: 119316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-25_2557-24delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-25_292-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-25_1072-24delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-25_436-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-25_2557-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-25_2557-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-25_2642-24delTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-25_2557-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-25_2629-24delTG
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-25_*159-24delTG
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: CTG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

20-62323069-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323069
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323069
    reference: chr 20
allele count: 13
allele frequency: 1.088540183879557e-4
allele num: 119426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-26G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-26G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-26G>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-26G>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-26G>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

20-62323081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323081
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323081
    reference: chr 20
allele count: 2
allele frequency: 1.672716324038606e-5
allele num: 119566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-14T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-14T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-14T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-14T>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-14T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

20-62323084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323084
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323084
    reference: chr 20
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-11G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-11G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-11G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-11G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-11G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-11G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-11G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-11G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-11G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-11G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24280
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-62323087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323087
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323087
    reference: chr 20
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642-8C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159-8C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557-8C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557-8C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072-8C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2557-8C>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-62323095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323095
    reference: chr 20
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2557G>A
  hgvsp: ENSP00000353332.5:p.Ala853Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*159G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.436G>A
  hgvsp: ENSP00000425576.1:p.Ala146Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2557G>A
  hgvsp: ENSP00000359035.3:p.Ala853Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2629G>A
  hgvsp: ENSP00000424307.2:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.292G>A
  hgvsp: ENSP00000359020.1:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2557G>A
  hgvsp: ENSP00000322287.4:p.Ala853Thr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2642G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2557G>A
  hgvsp: ENSP00000457868.1:p.Ala853Thr
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala877Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/20-62323096-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323096
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323096
    reference: chr 20
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.293C>A
  hgvsp: ENSP00000359020.1:p.Ala98Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2558C>A
  hgvsp: ENSP00000322287.4:p.Ala853Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1073C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2558C>A
  hgvsp: ENSP00000353332.5:p.Ala853Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.437C>A
  hgvsp: ENSP00000425576.1:p.Ala146Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2558C>A
  hgvsp: ENSP00000359035.3:p.Ala853Asp
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*160C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2558C>A
  hgvsp: ENSP00000457868.1:p.Ala853Asp
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2643C>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2630C>A
  hgvsp: ENSP00000424307.2:p.Ala877Asp
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala877Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS

20-62323097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323097
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323097
    reference: chr 20
allele count: 2
allele frequency: 1.670285618840822e-5
allele num: 119740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2559C>T
  hgvsp: ENST00000370018.3:c.2559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.294C>T
  hgvsp: ENST00000370003.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1074C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2559C>T
  hgvsp: ENST00000318100.4:c.2559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*161C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.438C>T
  hgvsp: ENST00000496816.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2559C>T
  hgvsp: ENST00000360203.5:c.2559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2631C>T
  hgvsp: ENST00000508582.2:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2644C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2559C>T
  hgvsp: ENST00000482936.1:c.2559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2559C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

20-62323098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323098
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323098
    reference: chr 20
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2560C>T
  hgvsp: ENSP00000353332.5:p.His854Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1075C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2645C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2560C>T
  hgvsp: ENSP00000359035.3:p.His854Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2632C>T
  hgvsp: ENSP00000424307.2:p.His878Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.439C>T
  hgvsp: ENSP00000425576.1:p.His147Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2560C>T
  hgvsp: ENSP00000322287.4:p.His854Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.295C>T
  hgvsp: ENSP00000359020.1:p.His99Tyr
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2560C>T
  hgvsp: ENSP00000457868.1:p.His854Tyr
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*162C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17284
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His878Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/20-62323099-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323099
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323099
    reference: chr 20
allele count: 1
allele frequency: 8.350033400133601e-6
allele num: 119760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*163A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2561A>C
  hgvsp: ENSP00000457868.1:p.His854Pro
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.296A>C
  hgvsp: ENSP00000359020.1:p.His99Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2561A>C
  hgvsp: ENSP00000359035.3:p.His854Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.440A>C
  hgvsp: ENSP00000425576.1:p.His147Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2633A>C
  hgvsp: ENSP00000424307.2:p.His878Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1076A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2646A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2561A>C
  hgvsp: ENSP00000353332.5:p.His854Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2561A>C
  hgvsp: ENSP00000322287.4:p.His854Pro
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His878Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

20-62323100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323100
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323100
    reference: chr 20
allele count: 1
allele frequency: 8.350033400133601e-6
allele num: 119760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2634C>T
  hgvsp: ENST00000508582.2:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*164C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2562C>T
  hgvsp: ENST00000370018.3:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1077C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2562C>T
  hgvsp: ENST00000482936.1:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2562C>T
  hgvsp: ENST00000318100.4:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2562C>T
  hgvsp: ENST00000360203.5:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.297C>T
  hgvsp: ENST00000370003.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.441C>T
  hgvsp: ENST00000496816.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2647C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His878His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

20-62323102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323102
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323102
    reference: chr 20
allele count: 1
allele frequency: 8.348499774590506e-6
allele num: 119782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.299G>A
  hgvsp: ENSP00000359020.1:p.Ser100Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2636G>A
  hgvsp: ENSP00000424307.2:p.Ser879Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2649G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*166G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2564G>A
  hgvsp: ENSP00000353332.5:p.Ser855Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2564G>A
  hgvsp: ENSP00000322287.4:p.Ser855Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1079G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.443G>A
  hgvsp: ENSP00000425576.1:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2564G>A
  hgvsp: ENSP00000359035.3:p.Ser855Asn
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2564G>A
  hgvsp: ENSP00000457868.1:p.Ser855Asn
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11379
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser879Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

20-62323114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323114
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323114
    reference: chr 20
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1091T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.455T>C
  hgvsp: ENSP00000425576.1:p.Leu152Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*178T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2576T>C
  hgvsp: ENSP00000359035.3:p.Leu859Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2576T>C
  hgvsp: ENSP00000322287.4:p.Leu859Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.311T>C
  hgvsp: ENSP00000359020.1:p.Leu104Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2576T>C
  hgvsp: ENSP00000457868.1:p.Leu859Pro
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2648T>C
  hgvsp: ENSP00000424307.2:p.Leu883Pro
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2661T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2576T>C
  hgvsp: ENSP00000353332.5:p.Leu859Pro
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu883Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-62323115-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323115
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323115
    reference: chr 20
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2649G>C
  hgvsp: ENST00000508582.2:c.2649G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2662G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*179G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2577G>C
  hgvsp: ENST00000370018.3:c.2577G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2577G>C
  hgvsp: ENST00000360203.5:c.2577G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2577G>C
  hgvsp: ENST00000482936.1:c.2577G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.312G>C
  hgvsp: ENST00000370003.1:c.312G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.456G>C
  hgvsp: ENST00000496816.1:c.456G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1092G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2577G>C
  hgvsp: ENST00000318100.4:c.2577G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24669
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu883Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

20-62323117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323117
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323117
    reference: chr 20
allele count: 4
allele frequency: 3.338229403124583e-5
allele num: 119824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2579C>T
  hgvsp: ENSP00000457868.1:p.Ser860Phe
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.458C>T
  hgvsp: ENSP00000425576.1:p.Ser153Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1094C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2579C>T
  hgvsp: ENSP00000322287.4:p.Ser860Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2579C>T
  hgvsp: ENSP00000353332.5:p.Ser860Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2651C>T
  hgvsp: ENSP00000424307.2:p.Ser884Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.314C>T
  hgvsp: ENSP00000359020.1:p.Ser105Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2579C>T
  hgvsp: ENSP00000359035.3:p.Ser860Phe
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*181C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2664C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser884Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

20-62323118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323118
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323118
    reference: chr 20
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*182C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2580C>T
  hgvsp: ENST00000318100.4:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2580C>T
  hgvsp: ENST00000370018.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2665C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.315C>T
  hgvsp: ENST00000370003.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2580C>T
  hgvsp: ENST00000482936.1:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.459C>T
  hgvsp: ENST00000496816.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2580C>T
  hgvsp: ENST00000360203.5:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2652C>T
  hgvsp: ENST00000508582.2:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1095C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser884Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

20-62323121-CCTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323121
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323117
    reference: chr 20
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*189_*192delTCTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2672_2675delTCTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2659_2662delTCTG
  hgvsp: ENSP00000424307.2:p.Ser887ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.466_469delTCTG
  hgvsp: ENSP00000425576.1:p.Ser156ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2587_2590delTCTG
  hgvsp: ENSP00000353332.5:p.Ser863ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1102_1105delTCTG
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2587_2590delTCTG
  hgvsp: ENSP00000457868.1:p.Ser863ArgfsTer40
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2587_2590delTCTG
  hgvsp: ENSP00000322287.4:p.Ser863ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.322_325delTCTG
  hgvsp: ENSP00000359020.1:p.Ser108ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2587_2590delTCTG
  hgvsp: ENSP00000359035.3:p.Ser863ArgfsTer40
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5791
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser887ArgfsTer40
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: CCTGT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-62323123-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323123
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323123
    reference: chr 20
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2585T>G
  hgvsp: ENSP00000353332.5:p.Leu862Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2585T>G
  hgvsp: ENSP00000457868.1:p.Leu862Arg
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.320T>G
  hgvsp: ENSP00000359020.1:p.Leu107Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2585T>G
  hgvsp: ENSP00000322287.4:p.Leu862Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1100T>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2657T>G
  hgvsp: ENSP00000424307.2:p.Leu886Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*187T>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2585T>G
  hgvsp: ENSP00000359035.3:p.Leu862Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.464T>G
  hgvsp: ENSP00000425576.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2670T>G
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu886Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-62323124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323124
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323124
    reference: chr 20
allele count: 4
allele frequency: 3.338452293516726e-5
allele num: 119816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2586G>C
  hgvsp: ENST00000360203.5:c.2586G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2658G>C
  hgvsp: ENST00000508582.2:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2586G>C
  hgvsp: ENST00000370018.3:c.2586G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2671G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.321G>C
  hgvsp: ENST00000370003.1:c.321G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*188G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1101G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2586G>C
  hgvsp: ENST00000318100.4:c.2586G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.465G>C
  hgvsp: ENST00000496816.1:c.465G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2586G>C
  hgvsp: ENST00000482936.1:c.2586G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu886Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

20-62323128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62323128
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62323128
    reference: chr 20
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2590G>A
  hgvsp: ENSP00000359035.3:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.1105G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2590G>A
  hgvsp: ENSP00000353332.5:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2590G>A
  hgvsp: ENSP00000322287.4:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.325G>A
  hgvsp: ENSP00000359020.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2675G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.469G>A
  hgvsp: ENSP00000425576.1:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2590G>A
  hgvsp: ENSP00000457868.1:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.*192G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2662G>A
  hgvsp: ENSP00000424307.2:p.Glu888Lys
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu888Lys
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 10
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 2.073828287017835e-4
allele num: 4822
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.38790837401427e-5
allele num: 10652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29230
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -9.599999999999999e-3

ReadPosRankSum
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SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 7.455e0

DP
type: SiteQuality
SIO_000300: 7.86382e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34074
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

Other
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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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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 7.87e-1

InbreedingCoeff
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SIO_000300: -7.4e-3

BaseQRankSum
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DP
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SIO_000300: 8.61469e5

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
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SIO_000300: 6.37e-1

ReadPosRankSum
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SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

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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variant carriers: 0

African
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allele count: 1
allele frequency: 1.804402742692169e-4
allele num: 5542
num of homozygotes: 0

Other
type: Population
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35646
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 1.223e0

VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -7.29e-1

BaseQRankSum
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SIO_000300: -2.149e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.337e1

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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GenotypeQuality
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GenotypeQuality
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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: 310
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.491488193300384e-5
allele num: 36420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1542
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 2.079002079002079e-3
allele num: 5772
num of homozygotes: 1

Latino
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allele count: 1
allele frequency: 1.69606512890095e-4
allele num: 5896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
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SIO_000300: 5.42e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
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SIO_000300: -3.9e-2

ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.02487e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 6.281407035175879e-4
allele num: 1592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37004
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.773e0

InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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QD
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SIO_000300: 2.955e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 9.05739e5

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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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.684068710003368e-4
allele num: 11876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37722
num of homozygotes: 0

African
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allele count: 3
allele frequency: 5.105513955071477e-4
allele num: 5876
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.692620176032498e-4
allele num: 5908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
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SIO_000300: 9.1863e5

BaseQRankSum
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SIO_000300: -1.018e0

InbreedingCoeff
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SIO_000300: -6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 9.83e-1

VQSLOD
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SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.63047138047138e-5
allele num: 38016
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.627074520013016e-4
allele num: 6146
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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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
all individuals: 364
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.618122977346278e-4
allele num: 6180
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 1.51e0

ClippingRankSum
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SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
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SIO_000300: -6.5e-3

MQ
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SIO_000300: 6.0e1

QD
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VQSLOD
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SIO_000300: -3.006e0

BaseQRankSum
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SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 1.352e0

DP
type: SiteQuality
SIO_000300: 9.23703e5

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 1

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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GenotypeQuality
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variant carriers: 3

Other
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allele count: 1
allele frequency: 2.049180327868853e-3
allele num: 488
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 91
allele frequency: 2.358001658374793e-3
allele num: 38592
num of homozygotes: 0

African
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allele count: 3
allele frequency: 4.927726675427069e-4
allele num: 6088
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 6.499837504062399e-4
allele num: 6154
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

European (Finnish)
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allele count: 27
allele frequency: 1.490066225165563e-2
allele num: 1812
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.33e-1

DP
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 9.140000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

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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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38116
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

Latino
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allele frequency: 1.662234042553191e-4
allele num: 6016
num of homozygotes: 0

African
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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
allele num: 488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.32e0

FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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SIO_000300: -4.42e-1

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 7.2e-3

ReadPosRankSum
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SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

DP
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SIO_000300: 9.15697e5

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
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allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5740
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

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

European (Non-Finnish)
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allele frequency: 2.659715942337358e-5
allele num: 37598
num of homozygotes: 0

African
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -7.6e-3

VQSLOD
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DP
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SIO_000300: 9.03758e5

FS
type: SiteQuality
SIO_000300: 4.856e0

MQRankSum
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SIO_000300: 3.6e-2

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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11754
num of homozygotes: 0

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

African
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allele frequency: 1.652892561983471e-4
allele num: 6050
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5606
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European (Non-Finnish)
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allele frequency: 2.724944138645158e-5
allele num: 36698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
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SIO_000300: -7.7e-3

ClippingRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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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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African
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allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5112
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
allele num: 436
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 20
allele frequency: 5.981576743629621e-4
allele num: 33436
num of homozygotes: 0

South Asian
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ClippingRankSum
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MQ
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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South Asian
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allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.988643156007173e-5
allele num: 33460
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Other
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European (Finnish)
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Latino
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

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

Other
type: Population
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 32800
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MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeDepth
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5605
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 700
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.244225279003374e-5
allele num: 30824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

QD
type: SiteQuality
SIO_000300: 1.083e1

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

DP
type: SiteQuality
SIO_000300: 7.48617e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 458
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.330890680167877e-5
allele num: 30022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.34921e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 1.268e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 3.193e1

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 6170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.337524242626898e-4
allele num: 29906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 7.33154e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 6.51e0

FS
type: SiteQuality
SIO_000300: 8.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeDepth
all individuals: 10
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 728
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
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GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9709
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.909854851031322e-4
allele num: 5236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.248e0

DP
type: SiteQuality
SIO_000300: 7.26788e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
all individuals: 1694
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9528
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 6.68085e5

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 6631
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variant carriers: 0

GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 288
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12109
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variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 1395
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 1890
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GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.137665669089354e-4
allele num: 4678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

DP
type: SiteQuality
SIO_000300: 6.35294e5

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 4.343e0

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 116
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 442
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GenotypeQuality
all individuals: 1700
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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GenotypeQuality
all individuals: 6230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
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GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1633
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.067484662576687e-3
allele num: 326
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 2.007e1

FS
type: SiteQuality
SIO_000300: 1.228e0

DP
type: SiteQuality
SIO_000300: 6.0869e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 452
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 442
bin: 7.25e1
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 98
bin: 4.75e1
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GenotypeQuality
all individuals: 27050
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GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

South Asian
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allele count: 1
allele frequency: 1.010305112143867e-4
allele num: 9898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.353790613718412e-4
allele num: 22160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.284148012791229e-4
allele num: 4378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 6.01341e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.804e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 27300
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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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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.584632312488538e-5
allele num: 21812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.299908003679853e-4
allele num: 4348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.958e0

DP
type: SiteQuality
SIO_000300: 6.00513e5

InbreedingCoeff
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SIO_000300: -3.14e-2

ReadPosRankSum
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SIO_000300: -3.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-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: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.69879e5

QD
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 3.274e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -2.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 424
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GenotypeQuality
all individuals: 5084
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.192982456140351e-3
allele num: 456
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.742160278745645e-3
allele num: 1722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 5.443987418340189e-4
allele num: 16532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 5.2451e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 24089
bin: 7.5e0
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1400
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 63
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GenotypeQuality
all individuals: 1034
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.347245409015025e-4
allele num: 1198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.195871761089152e-4
allele num: 13662
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 4.92675e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 3.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1049
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 8.07e0

DP
type: SiteQuality
SIO_000300: 4.89432e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.043226623259179e-5
allele num: 11058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.030927835051546e-2
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.89e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.74147e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-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
all individuals: 98
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GenotypeQuality
all individuals: 795
bin: 3.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
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South 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
allele num: 2892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 4430
bin: 1.25e1
variant carriers: 4312

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 310

GenotypeQuality
all individuals: 5705
bin: 2.5e0
variant carriers: 39

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 905

GenotypeQuality
all individuals: 5857
bin: 2.25e1
variant carriers: 5015

GenotypeQuality
all individuals: 795
bin: 8.75e1
variant carriers: 792

GenotypeQuality
all individuals: 7382
bin: 7.5e0
variant carriers: 3808

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 450

GenotypeQuality
all individuals: 764
bin: 5.75e1
variant carriers: 762

GenotypeQuality
all individuals: 7586
bin: 1.75e1
variant carriers: 7462

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 611

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 734

GenotypeQuality
all individuals: 1085
bin: 6.25e1
variant carriers: 697

GenotypeQuality
all individuals: 8074
bin: 9.75e1
variant carriers: 8070

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 718

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 404

GenotypeQuality
all individuals: 1843
bin: 2.75e1
variant carriers: 1799

GenotypeQuality
all individuals: 351
bin: 7.25e1
variant carriers: 339

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 600

European (Non-Finnish)
type: Population
allele count: 9425
allele frequency: 7.872535917139993e-1
allele num: 11972
num of homozygotes: 3631

East Asian
type: Population
allele count: 462
allele frequency: 3.843594009983361e-1
allele num: 1202
num of homozygotes: 48

South Asian
type: Population
allele count: 6281
allele frequency: 7.289925719591458e-1
allele num: 8616
num of homozygotes: 2295

African
type: Population
allele count: 2931
allele frequency: 9.35226547543076e-1
allele num: 3134
num of homozygotes: 1376

Latino
type: Population
allele count: 626
allele frequency: 7.347417840375586e-1
allele num: 852
num of homozygotes: 217

European (Finnish)
type: Population
allele count: 224
allele frequency: 8.235294117647058e-1
allele num: 272
num of homozygotes: 88

Other
type: Population
allele count: 152
allele frequency: 6.972477064220184e-1
allele num: 218
num of homozygotes: 55

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.886e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.64583e5

VQSLOD
type: SiteQuality
SIO_000300: 1.259e1

QD
type: SiteQuality
SIO_000300: 2.643e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 32100
bin: 7.5e0
variant carriers: 76

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 6882
bin: 2.25e1
variant carriers: 26

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1640
bin: 1.75e1
variant carriers: 65

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 404
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 353

GenotypeQuality
all individuals: 398
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 30

GenotypeQuality
all individuals: 4411
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1249
bin: 1.25e1
variant carriers: 75

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 29

GenotypeQuality
all individuals: 858
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 130
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 4

African
type: Population
allele count: 9
allele frequency: 3.807106598984772e-3
allele num: 2364
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 6.551362683438155e-3
allele num: 7632
num of homozygotes: 1

Latino
type: Population
allele count: 12
allele frequency: 2.898550724637681e-2
allele num: 414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 8.108108108108109e-2
allele num: 74
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.097560975609756e-3
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 171
allele frequency: 2.2265625e-2
allele num: 7680
num of homozygotes: 3

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 3.71507e5

QD
type: SiteQuality
SIO_000300: 1.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1124
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32796
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.337971635001338e-4
allele num: 7474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.255e0

DP
type: SiteQuality
SIO_000300: 3.6731e5

FS
type: SiteQuality
SIO_000300: 9.215999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.96e1

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 3.61888e5

QD
type: SiteQuality
SIO_000300: 3.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.303e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.149999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.42956e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5483
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.799e1

DP
type: SiteQuality
SIO_000300: 3.16421e5

GenotypeQuality
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.496503496503497e-3
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.293680297397769e-4
allele num: 2152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 7.813e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.6022e5

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.633920296570899e-4
allele num: 2158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.393e0

MQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.019999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.15e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.585e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

DP
type: SiteQuality
SIO_000300: 2.52248e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

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: 2114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.15e-2

DP
type: SiteQuality
SIO_000300: 2.3584e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 23
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 1.331360946745562e-2
allele num: 2028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 2.09934e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4230
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 1.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 6.094e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

DP
type: SiteQuality
SIO_000300: 1.994822e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.134969325153375e-5
allele num: 65200
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.454e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.702e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.994941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533977603926983e-5
allele num: 65190
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
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SIO_000300: 2.3e-3

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.271e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 3.815e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.998108e6

GenotypeQuality
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variant carriers: 1

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

Other
type: Population
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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: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.456e-1

ClippingRankSum
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SIO_000300: -1.266e0

MQRankSum
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SIO_000300: -5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.998526e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534071733194244e-5
allele num: 65186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

InbreedingCoeff
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SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.01e1

DP
type: SiteQuality
SIO_000300: 1.999184e6

FS
type: SiteQuality
SIO_000300: 1.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.976e0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.001289e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.846e0

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 9.94e0

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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533272002453235e-5
allele num: 65220
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.2826e1

DP
type: SiteQuality
SIO_000300: 2.001768e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.177e0

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

GenotypeQuality
all individuals: 5773
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65206
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 6.111e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.003377e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
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allele count: 13
allele frequency: 1.270275552081298e-3
allele num: 10234
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.031e0

QD
type: SiteQuality
SIO_000300: 1.307e1

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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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65294
num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.79e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65308
num of homozygotes: 0

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

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

South Asian
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Other
type: Population
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

South Asian
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East Asian
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African
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Latino
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allele num: 11546
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 6.279e0

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

European (Finnish)
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allele frequency: 1.51285930408472e-4
allele num: 6610
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Other
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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DP
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

African
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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MQRankSum
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FS
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65418
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East Asian
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European (Finnish)
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African
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Latino
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Other
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South Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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East Asian
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Other
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European (Non-Finnish)
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allele num: 65426
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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MQ
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FS
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VQSLOD
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