17-62502184-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502184
    reference: chr 17
allele count: 1
allele frequency: 2.329807557895718e-5
allele num: 42922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.214+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+689G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-310+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+448G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.44+10G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.214+10G>C
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-62502191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502191
    reference: chr 17
allele count: 1
allele frequency: 1.936408349792804e-5
allele num: 51642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+682G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-310+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.214+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+441G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.214+3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.44+3G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.44+3G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-62502194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502194
    reference: chr 17
allele count: 1
allele frequency: 1.766909322213584e-5
allele num: 56596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.214G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.44G>A
  hgvsp: ENSP00000403085.2:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.44G>A
  hgvsp: ENSP00000463975.1:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-310G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+438G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.44G>A
  hgvsp: ENSP00000464566.1:p.Gly15Asp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.44G>A
  hgvsp: ENSP00000440276.2:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.214G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+679G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.44G>A
  hgvsp: ENSP00000225792.5:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.44G>A
  hgvsp: ENSP00000462206.1:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.44G>A
  hgvsp: ENSP00000464337.1:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.44G>A
  hgvsp: ENSP00000463168.1:p.Gly15Glu
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly15Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-62502204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502204
    reference: chr 17
allele count: 2
allele frequency: 2.760981805129904e-5
allele num: 72438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.34C>T
  hgvsp: ENSP00000463975.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+428C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.34C>T
  hgvsp: ENSP00000462206.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.204C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.34C>T
  hgvsp: ENSP00000403085.2:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.34C>T
  hgvsp: ENSP00000225792.5:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.34C>T
  hgvsp: ENSP00000440276.2:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.34C>T
  hgvsp: ENSP00000463168.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.204C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.34C>T
  hgvsp: ENSP00000464566.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.34C>T
  hgvsp: ENSP00000464337.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+669C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-320C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg12Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-62502208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502208
    reference: chr 17
allele count: 1
allele frequency: 1.304257095158598e-5
allele num: 76672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+665C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.30C>T
  hgvsp: ENST00000578400.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.30C>T
  hgvsp: ENST00000225792.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+424C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.30C>T
  hgvsp: ENST00000584279.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.30C>T
  hgvsp: ENST00000540698.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.30C>T
  hgvsp: ENST00000450599.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.200C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.200C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.30C>T
  hgvsp: ENST00000585111.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-324C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.30C>T
  hgvsp: ENST00000577922.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.30C>T
  hgvsp: ENST00000581693.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-62502208-GCGGTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502202
    reference: chr 17
allele count: 1
allele frequency: 1.304257095158598e-5
allele num: 76672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.24_29delAGACCG
  hgvsp: ENSP00000464337.1:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.24_29delAGACCG
  hgvsp: ENSP00000464566.1:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.194_199delAGACCG
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.24_29delAGACCG
  hgvsp: ENSP00000403085.2:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.24_29delAGACCG
  hgvsp: ENSP00000440276.2:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.24_29delAGACCG
  hgvsp: ENSP00000463168.1:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.24_29delAGACCG
  hgvsp: ENSP00000463975.1:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+659_-272+664delAGACCG
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.24_29delAGACCG
  hgvsp: ENSP00000225792.5:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.24_29delAGACCG
  hgvsp: ENSP00000462206.1:p.Asp9_Arg10del
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+418_-272+423delAGACCG
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.194_199delAGACCG
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-330_-325delAGACCG
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp9_Arg10del
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: GCGGTCT
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-62502210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502210
    reference: chr 17
allele count: 1
allele frequency: 1.274924779438013e-5
allele num: 78436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.28C>G
  hgvsp: ENSP00000403085.2:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.198C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+663C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.28C>G
  hgvsp: ENSP00000464566.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.28C>G
  hgvsp: ENSP00000463975.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.198C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.28C>G
  hgvsp: ENSP00000464337.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-326C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.28C>G
  hgvsp: ENSP00000462206.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.28C>G
  hgvsp: ENSP00000463168.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.28C>G
  hgvsp: ENSP00000440276.2:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.28C>G
  hgvsp: ENSP00000225792.5:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+422C>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-62502227-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502227
    reference: chr 17
allele count: 2
allele frequency: 2.390114486483902e-5
allele num: 83678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.11A>T
  hgvsp: ENSP00000464337.1:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.11A>T
  hgvsp: ENSP00000225792.5:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+646A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.11A>T
  hgvsp: ENSP00000462206.1:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.181A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.11A>T
  hgvsp: ENSP00000463168.1:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.11A>T
  hgvsp: ENSP00000403085.2:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.11A>T
  hgvsp: ENSP00000463975.1:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.181A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.11A>T
  hgvsp: ENSP00000440276.2:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+405A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.11A>T
  hgvsp: ENSP00000464566.1:p.Tyr4Phe
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-343A>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr4Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-62502231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502231
    reference: chr 17
allele count: 1
allele frequency: 1.198839523341406e-5
allele num: 83414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.7G>A
  hgvsp: ENSP00000464337.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.7G>A
  hgvsp: ENSP00000463168.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.7G>A
  hgvsp: ENSP00000462206.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.7G>A
  hgvsp: ENSP00000225792.5:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+401G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.7G>A
  hgvsp: ENSP00000440276.2:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+642G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.7G>A
  hgvsp: ENSP00000463975.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-347G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.7G>A
  hgvsp: ENSP00000403085.2:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.177G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.7G>A
  hgvsp: ENSP00000464566.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.177G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly3Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-62502238-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502238
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502238
    reference: chr 17
allele count: 1
allele frequency: 1.212150597590245e-5
allele num: 82498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+394C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.170C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-354C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.170C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+635C>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-62502240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502240
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502240
    reference: chr 17
allele count: 1
allele frequency: 1.215569007852576e-5
allele num: 82266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+633G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.168G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+392G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.168G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-356G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-62502241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502241
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502241
    reference: chr 17
allele count: 1
allele frequency: 1.220941590154327e-5
allele num: 81904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+632C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+391C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.167C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.167C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-357C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

17-62502242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502242
    reference: chr 17
allele count: 1
allele frequency: 1.219482451647521e-5
allele num: 82002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+631A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.166A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-358A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.166A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+390A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-62502243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502243
    reference: chr 17
allele count: 1
allele frequency: 1.22318174034298e-5
allele num: 81754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.165G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+630G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.165G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-359G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-6G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+389G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-62502244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502244
    reference: chr 17
allele count: 2
allele frequency: 2.452844072702298e-5
allele num: 81538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+629T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.164T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-360T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.164T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+388T>C
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-62502245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502245
    reference: chr 17
allele count: 3
allele frequency: 3.699501800424209e-5
allele num: 81092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+387T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.163T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-361T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.163T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+628T>C
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-62502249-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502249
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502249
    reference: chr 17
allele count: 2
allele frequency: 2.506579771901241e-5
allele num: 79790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.159A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+383A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.159A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+624A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-365A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-12A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-62502252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502252
    reference: chr 17
allele count: 1
allele frequency: 1.279918085242544e-5
allele num: 78130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.156G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+621G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-368G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+380G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.156G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19275
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-62502254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502254
    reference: chr 17
allele count: 1
allele frequency: 1.290888906100741e-5
allele num: 77466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+378C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+619C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.154C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-370C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.154C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

17-62502255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502255
    reference: chr 17
allele count: 3
allele frequency: 3.883796799751437e-5
allele num: 77244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-371A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+618A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.153A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+377A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.153A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-62502256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502256
    reference: chr 17
allele count: 2
allele frequency: 2.601930632529337e-5
allele num: 76866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+376A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.152A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+617A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-372A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.152A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-62502257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502257
    reference: chr 17
allele count: 28
allele frequency: 3.693736478286106e-4
allele num: 75804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.151C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+375C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.151C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+616C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-373C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20483
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-62502258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502258
    reference: chr 17
allele count: 1
allele frequency: 1.320062306940888e-5
allele num: 75754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+615C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-374C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.150C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+374C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.150C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-62502260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502260
    reference: chr 17
allele count: 1
allele frequency: 1.346148668658967e-5
allele num: 74286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-376C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.148C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.148C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+372C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+613C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-62502261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502261
    reference: chr 17
allele count: 2
allele frequency: 2.689256420599704e-5
allele num: 74370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+371C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.147C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+612C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.147C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-377C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-62502262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502262
    reference: chr 17
allele count: 1
allele frequency: 1.352082206598161e-5
allele num: 73960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+611C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+370C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.146C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-378C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.146C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-62502270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502270
    reference: chr 17
allele count: 1
allele frequency: 1.42186833499218e-5
allele num: 70330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+603C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-386C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+362C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.138C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.138C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-62502270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502270
    reference: chr 17
allele count: 2
allele frequency: 2.84373666998436e-5
allele num: 70330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+603C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.138C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.138C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-33C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-386C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+362C>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-62502275-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502275
    reference: chr 17
allele count: 1
allele frequency: 1.482403866109283e-5
allele num: 67458
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+598A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.133A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.133A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-391A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+357A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-62502282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502282
    reference: chr 17
allele count: 1
allele frequency: 1.5485149741398e-5
allele num: 64578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.126C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-398C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+591C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+350C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.126C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-62502283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502283
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502283
    reference: chr 17
allele count: 2
allele frequency: 3.123243175713661e-5
allele num: 64036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+349G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-399G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+590G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.125G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-46G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.125G>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-62502286-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502286
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502286
    reference: chr 17
allele count: 1
allele frequency: 1.634895203217474e-5
allele num: 61166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+346C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+587C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.122C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.122C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-402C>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-62502288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502288
    reference: chr 17
allele count: 2
allele frequency: 3.290123050602092e-5
allele num: 60788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-404C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.120C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.120C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+344C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+585C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-51C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-62502297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502297
    reference: chr 17
allele count: 1
allele frequency: 1.803751803751804e-5
allele num: 55440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+335G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-413G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.111G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.111G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+576G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

17-62502299-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502299
    reference: chr 17
allele count: 1
allele frequency: 1.827485380116959e-5
allele num: 54720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+333C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-415C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+574C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.109C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.109C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-62C>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-62502301-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502301
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502301
    reference: chr 17
allele count: 4
allele frequency: 7.457677679170706e-5
allele num: 53636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+572T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+331T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.107T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-417T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.107T>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23315
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

17-62502305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502305
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 51082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-421C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.103C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+568C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+327C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-68C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.103C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-62502307-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502307
    reference: chr 17
allele count: 6
allele frequency: 1.211778486892596e-4
allele num: 49514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+325G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+566G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.101G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-70G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-423G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.101G>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-62502312-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502312
    reference: chr 17
allele count: 2
allele frequency: 4.414231482298932e-5
allele num: 45308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.96T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+320T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+561T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.96T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-428T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-75T>C
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26397
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-62502313-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502313
    reference: chr 17
allele count: 3
allele frequency: 6.615798526882194e-5
allele num: 45346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-429A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.95A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-76A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+319A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+560A>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.95A>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26404
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

17-62502313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62502313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62502313
    reference: chr 17
allele count: 1
allele frequency: 2.205266175627398e-5
allele num: 45346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000581230
  gene symbol: DDX5
  hgvsc: ENST00000581230.1:n.95A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000585223
  gene symbol: DDX5
  hgvsc: ENST00000585223.1:n.95A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000465791
  ensembl transcript: ENST00000585060
  gene symbol: DDX5
  hgvsc: ENST00000585060.1:c.-429A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000440276
  ensembl transcript: ENST00000540698
  gene symbol: DDX5
  hgvsc: ENST00000540698.2:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464064
  ensembl transcript: ENST00000581806
  gene symbol: DDX5
  hgvsc: ENST00000581806.1:c.-272+560A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464304
  ensembl transcript: ENST00000581697
  gene symbol: DDX5
  hgvsc: ENST00000581697.1:c.-272+319A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000403085
  ensembl transcript: ENST00000450599
  gene symbol: DDX5
  hgvsc: ENST00000450599.2:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464337
  ensembl transcript: ENST00000577922
  gene symbol: DDX5
  hgvsc: ENST00000577922.1:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000225792
  ensembl transcript: ENST00000225792
  gene symbol: DDX5
  hgvsc: ENST00000225792.5:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000464566
  ensembl transcript: ENST00000581693
  gene symbol: DDX5
  hgvsc: ENST00000581693.1:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463975
  ensembl transcript: ENST00000578400
  gene symbol: DDX5
  hgvsc: ENST00000578400.1:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000462206
  ensembl transcript: ENST00000584279
  gene symbol: DDX5
  hgvsc: ENST00000584279.1:c.-76A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-62503175-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503175
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503175
    reference: chr 17
allele count: 5
allele frequency: 2.571487348282246e-4
allele num: 19444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-427C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.401G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-323C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-446G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.493G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-41C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-62503179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503179
    reference: chr 17
allele count: 1
allele frequency: 5.158893933140735e-5
allele num: 19384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-319G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-450C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-37G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-423G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.397C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.489C>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9621
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-62503181-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503181
    reference: chr 17
allele count: 1
allele frequency: 5.162089613875697e-5
allele num: 19372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-421C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.395G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-35C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-452G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-317C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.487G>T
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-62503193-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503193
    reference: chr 17
allele count: 1
allele frequency: 5.447809980387884e-5
allele num: 18356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.475G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-464G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-305C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-23C>G
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.383G>C
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-409C>G
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-62503193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503193
    reference: chr 17
allele count: 1
allele frequency: 5.447809980387884e-5
allele num: 18356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.383G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-305C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-464G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-409C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.475G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-62503194-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503194
    reference: chr 17
allele count: 1
allele frequency: 5.424758598242378e-5
allele num: 18434
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-22G>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-465C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-408G>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.382C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.474C>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-304G>C
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-62503201-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503201
    reference: chr 17
allele count: 3
allele frequency: 1.731501789218515e-4
allele num: 17326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-472T>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-401A>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-15A>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-297A>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.467T>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.375T>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-62503210-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503210
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-6T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-481A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.-6T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-6T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.366A>G
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-288T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-6T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-392T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.458A>G
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-62503211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503211
    reference: chr 17
allele count: 13
allele frequency: 6.745537567455376e-4
allele num: 19272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-391G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.457C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-482C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.365C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.-5G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-5G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-287G>A
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-62503215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503215
    reference: chr 17
allele count: 1
allele frequency: 5.158361704322707e-5
allele num: 19386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-283C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.361G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-387C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.-1C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.453G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.-1C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-486G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-62503224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503224
    reference: chr 17
allele count: 1
allele frequency: 5.127679212388473e-5
allele num: 19502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-495G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-274C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.9C>T
  hgvsp: ENST00000556440.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.352G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-378C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.9C>T
  hgvsp: ENST00000579860.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.444G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.9C>T
  hgvsp: ENST00000553956.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.9C>T
  hgvsp: ENST00000581056.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly3Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-62503234-GGTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503230
    reference: chr 17
allele count: 1
allele frequency: 5.042864346949067e-5
allele num: 19830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-509_-506delTCAC
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.430_433delTCAC
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+4_-264+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+4_-368+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+4_19+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+4_19+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+4_19+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.338_341delTCAC
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+4_19+7delAGTG
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
hgvs: c.19+4_19+7delAGTG
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: GGTGA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-62503245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503245
    reference: chr 17
allele count: 2
allele frequency: 1.003713740841112e-4
allele num: 19926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.331G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.423G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+11C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+11C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-516G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+11C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+11C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+11C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+11C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/17-62503246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503246
    reference: chr 17
allele count: 1
allele frequency: 5.017561465127948e-5
allele num: 19930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.422G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-517G>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+12C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.330G>T
  variant of: http://identifiers.org/hgnc/2746
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-62503246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503246
    reference: chr 17
allele count: 1
allele frequency: 5.017561465127948e-5
allele num: 19930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+12C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.422G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+12C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-517G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+12C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+12C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+12C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.330G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+12C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12230
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

17-62503247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503247
    reference: chr 17
allele count: 1
allele frequency: 5.016051364365971e-5
allele num: 19936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.421G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-518G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+13C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.329G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+13C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+13C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+13C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+13C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+13C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-62503262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503262
    reference: chr 17
allele count: 1
allele frequency: 5.014542172299669e-5
allele num: 19942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+28G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+28G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+28G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.406C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+28G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+28G>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-533C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.314C>T
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+28G>A
  variant of: http://identifiers.org/hgnc/25141
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
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: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-62503266-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503266
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503266
    reference: chr 17
allele count: 1
allele frequency: 5.014039310068191e-5
allele num: 19944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.310C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.402C>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+32G>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-537C>A
  variant of: http://identifiers.org/hgnc/2746
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-62503275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503275
    reference: chr 17
allele count: 2
allele frequency: 1.003613006824568e-4
allele num: 19928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.393G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-546G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+41C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.301G>A
  variant of: http://identifiers.org/hgnc/2746
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-62503276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62503276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62503276
    reference: chr 17
allele count: 2
allele frequency: 1.003210272873194e-4
allele num: 19936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108654
  ensembl protein: ENSP00000463168
  ensembl transcript: ENST00000585111
  gene symbol: DDX5
  hgvsc: ENST00000585111.1:c.-547G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.19+42C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.19+42C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000583699
  gene symbol: DDX5
  hgvsc: ENST00000583699.1:n.392G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108654
  ensembl transcript: ENST00000584500
  gene symbol: DDX5
  hgvsc: ENST00000584500.1:n.300G>A
  variant of: http://identifiers.org/hgnc/2746
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.19+42C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.19+42C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-264+42C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-368+42C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-62504659-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504660
    reference: chr 17
allele count: 2
allele frequency: 1.840129545119977e-5
allele num: 108688
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-148dupT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-44dupT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-44dupT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-44dupT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-44dupT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-44dupT
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

17-62504674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504674
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504674
    reference: chr 17
allele count: 7
allele frequency: 6.341268978512157e-5
allele num: 110388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-36T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-36T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-36T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-36T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-140T>C
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-36T>C
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19072
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-62504688-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504687
    reference: chr 17
allele count: 2
allele frequency: 1.772012829372885e-5
allele num: 112866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-19delT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-19delT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-19delT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-19delT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-123delT
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-19delT
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: CT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-62504692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504692
    reference: chr 17
allele count: 2
allele frequency: 1.765131590560076e-5
allele num: 113306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-18C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-122C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-18C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-18C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-18C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-18C>A
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9175
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 196
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24033
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

17-62504692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504692
    reference: chr 17
allele count: 1
allele frequency: 8.825657952800381e-6
allele num: 113306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-18C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-18C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-18C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-18C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-122C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-18C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-62504693-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504693
    reference: chr 17
allele count: 1
allele frequency: 8.802197028378284e-6
allele num: 113608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-17C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-17C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-17C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-121C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-17C>A
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-17C>A
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-62504693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62504693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 62504693
    reference: chr 17
allele count: 1
allele frequency: 8.802197028378284e-6
allele num: 113608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450461
  ensembl transcript: ENST00000556440
  gene symbol: CEP95
  hgvsc: ENST00000556440.2:c.20-17C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000452317
  ensembl transcript: ENST00000553956
  gene symbol: CEP95
  hgvsc: ENST00000553956.2:c.20-17C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000467102
  ensembl transcript: ENST00000580188
  gene symbol: CEP95
  hgvsc: ENST00000580188.1:c.-263-121C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462189
  ensembl transcript: ENST00000581056
  gene symbol: CEP95
  hgvsc: ENST00000581056.1:c.20-17C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000462779
  ensembl transcript: ENST00000579860
  gene symbol: CEP95
  hgvsc: ENST00000579860.1:c.20-17C>T
  variant of: http://identifiers.org/hgnc/25141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258890
  ensembl protein: ENSP00000450906
  ensembl transcript: ENST00000553412
  gene symbol: CEP95
  hgvsc: ENST00000553412.1:c.-367-17C>T
  variant of: http://identifiers.org/hgnc/25141
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 742
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 989
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 854
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.56278831368529e-4
allele num: 3902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

VQSLOD
type: SiteQuality
SIO_000300: -1.295e0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 8.43526e5

FS
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.588e1

GenotypeDepth
all individuals: 1024
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1191
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.13765e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.461e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeDepth
all individuals: 1472
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1022
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2628
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.243383497664764e-5
allele num: 30832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.74e0

DP
type: SiteQuality
SIO_000300: 9.53586e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -2.703e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeDepth
all individuals: 476
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.474145182839329e-5
allele num: 40418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 1.082284e6

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26373
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 744
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 730
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.332524724762083e-5
allele num: 42872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.11687e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele num: 42872
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European (Finnish)
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Latino
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African
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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Latino
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ClippingRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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Other
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African
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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ClippingRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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Other
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QD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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East Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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DP
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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European (Finnish)
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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QD
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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African
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South Asian
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Latino
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European (Finnish)
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 6.1e-2

InbreedingCoeff
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SIO_000300: -5.1e-3

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.075411e6

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
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SIO_000300: 8.279999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 704
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6240
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: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 6.9025815655055e-5
allele num: 43462
num of homozygotes: 0

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

Other
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
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QD
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MQ
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DP
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SIO_000300: 1.069096e6

ClippingRankSum
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SIO_000300: 2.7e-2

VQSLOD
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FS
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BaseQRankSum
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SIO_000300: 3.18e0

InbreedingCoeff
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SIO_000300: -5.0e-3

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 4.628986714808128e-5
allele num: 43206
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

InbreedingCoeff
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SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.062773e6

QD
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SIO_000300: 1.112e1

ClippingRankSum
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SIO_000300: -2.3e-2

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.049203440011279e-5
allele num: 42558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

South Asian
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allele count: 25
allele frequency: 2.139678192399863e-3
allele num: 11684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
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SIO_000300: -1.517e0

QD
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InbreedingCoeff
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SIO_000300: -5.8e-3

DP
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MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.6e-3

BaseQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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SIO_000300: 1.25e0

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 1
allele frequency: 1.727115716753022e-4
allele num: 5790
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

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

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

Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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MQ
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

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

South Asian
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allele count: 2
allele frequency: 1.724435247456458e-4
allele num: 11598
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2003
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.417561164297457e-5
allele num: 41364
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -3.52e-1

InbreedingCoeff
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SIO_000300: -6.3e-3

MQ
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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SIO_000300: -7.05e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 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 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

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.615508885298869e-4
allele num: 6190
num of homozygotes: 0

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

MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.933e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

Latino
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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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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele num: 39196
num of homozygotes: 0

South Asian
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European (Finnish)
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 8.3e-2

ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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Latino
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South Asian
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 3.606202668589975e-4
allele num: 5546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
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SIO_000300: -1.49e-2

QD
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ClippingRankSum
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SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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FS
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MQRankSum
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SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 8.4078e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30430
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.88e-2

ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 8.88e-1

MQRankSum
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SIO_000300: 1.7e-2

VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 5.985e1

DP
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SIO_000300: 8.00073e5

QD
type: SiteQuality
SIO_000300: 1.165e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.334889615153738e-5
allele num: 29986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.863e-1

ReadPosRankSum
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SIO_000300: 9.78e-1

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.572e1

BaseQRankSum
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SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.9623e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 283
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GenotypeQuality
all individuals: 3391
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.971405877680699e-4
allele num: 10072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 7.85532e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

FS
type: SiteQuality
SIO_000300: 1.1857e1

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1241
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27762
num of homozygotes: 0

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

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

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: 350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
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SIO_000300: -2.28e-2

ClippingRankSum
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DP
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QD
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.105166428425567e-4
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.733572281959379e-5
allele num: 26784
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 4.436557231588288e-4
allele num: 4508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.240181893344357e-4
allele num: 24190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

DP
type: SiteQuality
SIO_000300: 7.49837e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.045369015262388e-4
allele num: 9566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
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SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.49837e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.321112515802782e-4
allele num: 7910
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.74e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 2.6429e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 5.44783e5

QD
type: SiteQuality
SIO_000300: 1.075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.736111111111111e-3
allele num: 576
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

DP
type: SiteQuality
SIO_000300: 5.43707e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

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
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.220107369448512e-4
allele num: 8196
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
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VQSLOD
type: SiteQuality
SIO_000300: -2.355e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 2.321e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.015e0

DP
type: SiteQuality
SIO_000300: 5.43371e5

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.619999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 5.494505494505495e-4
allele num: 1820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.613e0

DP
type: SiteQuality
SIO_000300: 5.34319e5

QD
type: SiteQuality
SIO_000300: 1.44e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 386
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South Asian
type: Population
allele count: 1
allele frequency: 1.264222503160556e-4
allele num: 7910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 562
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Other
type: Population
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.613e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.08e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

ClippingRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.44e1

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
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: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

South Asian
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allele num: 7910
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.471e0

FS
type: SiteQuality
SIO_000300: 2.9103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.569999999999999e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.34901e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 374
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.497902935889754e-4
allele num: 6676
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.207729468599034e-3
allele num: 1656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.64e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 5.3348e5

VQSLOD
type: SiteQuality
SIO_000300: -1.14e1

FS
type: SiteQuality
SIO_000300: 5.2602e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.406e0

QD
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.610000000000001e-2

DP
type: SiteQuality
SIO_000300: 5.58313e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
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allele count: 13
allele frequency: 6.612410986775178e-3
allele num: 1966
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.519999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

FS
type: SiteQuality
SIO_000300: 1.105e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 5.5914e5

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.21300339640951e-4
allele num: 8244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 2.486e0

DP
type: SiteQuality
SIO_000300: 5.58082e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.610000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.929e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-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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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

QD
type: SiteQuality
SIO_000300: 8.42e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 5.58653e5

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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

MQRankSum
type: SiteQuality
SIO_000300: -1.752e0

MQ
type: SiteQuality
SIO_000300: 5.664e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 1.555e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 5.63592e5

GenotypeQuality
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bin: 5.75e1
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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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.61545e5

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.545e0

DP
type: SiteQuality
SIO_000300: 5.6175e5

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 5.6175e5

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

FS
type: SiteQuality
SIO_000300: 2.545e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5425
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.599816007359706e-4
allele num: 2174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 2.669e0

DP
type: SiteQuality
SIO_000300: 5.61954e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.824e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.5872e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.146e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.56959e5

VQSLOD
type: SiteQuality
SIO_000300: -2.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Latino
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: 7906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

FS
type: SiteQuality
SIO_000300: 3.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 5.54033e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
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GenotypeQuality
all individuals: 5427
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.599816007359706e-4
allele num: 2174
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 4.932e0

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 5.539e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622481098095207e-5
allele num: 61634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.262626262626263e-3
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.592575e6

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62556
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.340579710144927e-4
allele num: 11040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.6474e1

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 1.67766e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.089427496865859e-4
allele num: 9572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 1.749884e6

QD
type: SiteQuality
SIO_000300: 1.125e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12618
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.768659356207994e-4
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63942
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 4.732e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24033
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GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563917300053173e-5
allele num: 63942
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 4.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.762993e6

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.355e0

GenotypeQuality
all individuals: 3170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56011107990889e-5
allele num: 64098
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.349e0

QD
type: SiteQuality
SIO_000300: 7.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.994e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.766904e6