3-184101300-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101300
    reference: chr 3
allele count: 19
allele frequency: 1.575952621887493e-4
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1321-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1062-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+94C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.211-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1477-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238805C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2344-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*239-11C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1321-11C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-184101305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101305
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101305
    reference: chr 3
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1321-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238810C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.211-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1477-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1321-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+99C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2344-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*239-6C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1062-6C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1321-6C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-184101311-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101311
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101311
    reference: chr 3
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1062G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+105G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1321G>C
  hgvsp: ENSP00000204604.1:p.Val441Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1477G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238816G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.211G>C
  hgvsp: ENSP00000442948.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1321G>C
  hgvsp: ENSP00000408972.1:p.Val441Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*239G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2344G>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val441Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-184101326-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101326
    reference: chr 3
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*254A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1077A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2359A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1336A>G
  hgvsp: ENSP00000408972.1:p.Thr446Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.226A>G
  hgvsp: ENSP00000442948.1:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1492A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+120A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1336A>G
  hgvsp: ENSP00000204604.1:p.Thr446Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238831A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr446Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

3-184101341-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101341
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101340
    reference: chr 3
allele count: 2
allele frequency: 1.655683963045134e-5
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.242delT
  hgvsp: ENSP00000442948.1:p.Val81GlyfsTer3
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2375delT
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+136delT
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1352delT
  hgvsp: ENSP00000408972.1:p.Val451GlyfsTer3
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1093delT
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1508delT
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*270delT
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1352delT
  hgvsp: ENSP00000204604.1:p.Val451GlyfsTer3
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238847delT
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val451GlyfsTer3
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

3-184101342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101342
    reference: chr 3
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2375T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+136T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.242T>C
  hgvsp: ENSP00000442948.1:p.Val81Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238847T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1352T>C
  hgvsp: ENSP00000408972.1:p.Val451Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1093T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1352T>C
  hgvsp: ENSP00000204604.1:p.Val451Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*270T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1508T>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val451Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

3-184101347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101347
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101347
    reference: chr 3
allele count: 4
allele frequency: 3.311806590495115e-5
allele num: 120780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.247A>G
  hgvsp: ENSP00000442948.1:p.Met83Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+141A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1098A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238852A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1357A>G
  hgvsp: ENSP00000408972.1:p.Met453Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*275A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1357A>G
  hgvsp: ENSP00000204604.1:p.Met453Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1513A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2380A>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met453Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-184101349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101349
    reference: chr 3
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1515G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1359G>C
  hgvsp: ENSP00000408972.1:p.Met453Ile
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1100G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.249G>C
  hgvsp: ENSP00000442948.1:p.Met83Ile
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*277G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238854G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1359G>C
  hgvsp: ENSP00000204604.1:p.Met453Ile
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+143G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2382G>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met453Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

3-184101351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101351
    reference: chr 3
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1102C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238856C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+145C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*279C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2384C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1517C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.251C>T
  hgvsp: ENSP00000442948.1:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1361C>T
  hgvsp: ENSP00000204604.1:p.Thr454Ile
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1361C>T
  hgvsp: ENSP00000408972.1:p.Thr454Ile
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28214
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr454Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-184101352-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101352
    reference: chr 3
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*280A>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.252A>T
  hgvsp: ENST00000545352.1:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+146A>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1362A>T
  hgvsp: ENST00000204604.1:c.1362A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1362A>T
  hgvsp: ENST00000450923.1:c.1362A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2385A>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1518A>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1103A>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238857A>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr454Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

3-184101353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101353
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101353
    reference: chr 3
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1363C>T
  hgvsp: ENST00000204604.1:c.1363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238858C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2386C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.253C>T
  hgvsp: ENST00000545352.1:c.253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1519C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+147C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1104C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1363C>T
  hgvsp: ENST00000450923.1:c.1363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu455Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-184101359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101359
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101359
    reference: chr 3
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1369A>G
  hgvsp: ENSP00000204604.1:p.Thr457Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.259A>G
  hgvsp: ENSP00000442948.1:p.Thr87Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1369A>G
  hgvsp: ENSP00000408972.1:p.Thr457Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238864A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1525A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2392A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1110A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*287A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+153A>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr457Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-184101360-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101360
    reference: chr 3
allele count: 36
allele frequency: 2.982552070388229e-4
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1111C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238865C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2393C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*288C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1370C>G
  hgvsp: ENSP00000204604.1:p.Thr457Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+154C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1526C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1370C>G
  hgvsp: ENSP00000408972.1:p.Thr457Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.260C>G
  hgvsp: ENSP00000442948.1:p.Thr87Ser
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr457Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-184101371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101371
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101371
    reference: chr 3
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.271C>T
  hgvsp: ENSP00000442948.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1381C>T
  hgvsp: ENSP00000204604.1:p.Arg461Trp
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238876C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1537C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2404C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1381C>T
  hgvsp: ENSP00000408972.1:p.Arg461Trp
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+165C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1122C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28097
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg461Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-184101372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101372
    reference: chr 3
allele count: 2
allele frequency: 1.66013679527193e-5
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1538G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238877G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.272G>A
  hgvsp: ENSP00000442948.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1382G>A
  hgvsp: ENSP00000408972.1:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1123G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2405G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*300G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+166G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1382G>A
  hgvsp: ENSP00000204604.1:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg461Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

3-184101382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101382
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101382
    reference: chr 3
allele count: 3
allele frequency: 2.496047924120143e-5
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.282G>A
  hgvsp: ENST00000545352.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1392G>A
  hgvsp: ENST00000450923.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1548G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238887G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1392G>A
  hgvsp: ENST00000204604.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1133G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+176G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2415G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln464Gln
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: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-184101384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101384
    reference: chr 3
allele count: 3
allele frequency: 2.49925022493252e-5
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238889G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+178G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1135G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1550G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.284G>A
  hgvsp: ENSP00000442948.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1394G>A
  hgvsp: ENSP00000204604.1:p.Arg465His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1394G>A
  hgvsp: ENSP00000408972.1:p.Arg465His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*312G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2417G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg465His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184101384-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101384
    reference: chr 3
allele count: 5
allele frequency: 4.165417041554201e-5
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*312G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+178G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2417G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238889G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.284G>T
  hgvsp: ENSP00000442948.1:p.Arg95Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1394G>T
  hgvsp: ENSP00000204604.1:p.Arg465Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1135G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1550G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1394G>T
  hgvsp: ENSP00000408972.1:p.Arg465Leu
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg465Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

3-184101388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101388
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101388
    reference: chr 3
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1139T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238893T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2421T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1554T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*316T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1398T>C
  hgvsp: ENST00000450923.1:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1398T>C
  hgvsp: ENST00000204604.1:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+182T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.288T>C
  hgvsp: ENST00000545352.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr466Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

3-184101411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101411
    reference: chr 3
allele count: 1
allele frequency: 8.485938799409379e-6
allele num: 117842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.311T>C
  hgvsp: ENSP00000442948.1:p.Leu104Pro
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1421T>C
  hgvsp: ENSP00000204604.1:p.Leu474Pro
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2444T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238916T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*339T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1577T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1162T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1421T>C
  hgvsp: ENSP00000408972.1:p.Leu474Pro
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+205T>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu474Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

3-184101413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101413
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101413
    reference: chr 3
allele count: 1
allele frequency: 8.503690601721147e-6
allele num: 117596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2446C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1423C>T
  hgvsp: ENSP00000204604.1:p.Gln475Ter
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*341C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1423C>T
  hgvsp: ENSP00000408972.1:p.Gln475Ter
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.313C>T
  hgvsp: ENSP00000442948.1:p.Gln105Ter
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+207C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1164C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238918C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1579C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln475Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184101415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101415
    reference: chr 3
allele count: 14
allele frequency: 1.192829391316202e-4
allele num: 117368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+209G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1425G>A
  hgvsp: ENST00000450923.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1166G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.315G>A
  hgvsp: ENST00000545352.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1425G>A
  hgvsp: ENST00000204604.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2448G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238920G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1581G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln475Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-184101416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101416
    reference: chr 3
allele count: 90
allele frequency: 7.684819919053231e-4
allele num: 117114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.316C>T
  hgvsp: ENSP00000442948.1:p.Pro106Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2449C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1426C>T
  hgvsp: ENSP00000204604.1:p.Pro476Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238921C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*344C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1426C>T
  hgvsp: ENSP00000408972.1:p.Pro476Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+210C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1582C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1167C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro476Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-184101429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101429
    reference: chr 3
allele count: 381
allele frequency: 3.298701298701299e-3
allele num: 115500
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1439C>T
  hgvsp: ENSP00000204604.1:p.Thr480Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.329C>T
  hgvsp: ENSP00000442948.1:p.Thr110Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238934C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1595C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1439C>T
  hgvsp: ENSP00000408972.1:p.Thr480Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+223C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2462C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*357C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1180C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 3
hgvs: p.Thr480Met
num of homozygotes: 8
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-184101434-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101434
    reference: chr 3
allele count: 1
allele frequency: 8.711560240439062e-6
allele num: 114790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+228A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238939A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+4A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+4A>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1440+4A>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-184101450-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101450
    reference: chr 3
allele count: 1
allele frequency: 8.880521464220379e-6
allele num: 112606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238955C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+20C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+244C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+20C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-184101452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101452
    reference: chr 3
allele count: 1
allele frequency: 8.905195290932729e-6
allele num: 112294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+246G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238957G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+22G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-184101458-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101458
    reference: chr 3
allele count: 3
allele frequency: 2.683891284510369e-5
allele num: 111778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+252C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238963C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+28C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+28C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-184101460-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101460
    reference: chr 3
allele count: 1
allele frequency: 8.960734063334468e-6
allele num: 111598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238965G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+254G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+30G>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+30G>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-184101462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101462
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101462
    reference: chr 3
allele count: 1
allele frequency: 8.980368913554968e-6
allele num: 111354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238967G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+256G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+32G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+32G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-184101463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101463
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101463
    reference: chr 3
allele count: 1
allele frequency: 8.986825314089544e-6
allele num: 111274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238968C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+33C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+257C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+33C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-184101466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101466
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101466
    reference: chr 3
allele count: 268
allele frequency: 2.413631614971721e-3
allele num: 111036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238971A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+260A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+36A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+36A>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 3.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 2
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-184101467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101467
    reference: chr 3
allele count: 3
allele frequency: 2.705286129096254e-5
allele num: 110894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238972A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+37A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+261A>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-184101468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101468
    reference: chr 3
allele count: 31
allele frequency: 2.798945429592979e-4
allele num: 110756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238973T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+38T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+262T>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

3-184101471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101471
    reference: chr 3
allele count: 1
allele frequency: 9.041264330403964e-6
allele num: 110604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238976A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+265A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+41A>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+41A>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-184101480-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184101480
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184101480
    reference: chr 3
allele count: 1
allele frequency: 9.110455158339711e-6
allele num: 109764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1440+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1596+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*358+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+238985G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.330+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1440+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1181+50G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1320+274G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2463+50G>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-184102276-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102276
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102276
    reference: chr 3
allele count: 4
allele frequency: 3.721484127870195e-5
allele num: 107484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239781C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-49C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-49C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-184102278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102278
    reference: chr 3
allele count: 11
allele frequency: 1.023655753875933e-4
allele num: 107458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239783T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-47T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-47T>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

3-184102285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102285
    reference: chr 3
allele count: 2
allele frequency: 1.85973852076398e-5
allele num: 107542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239790C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-40C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-40C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-184102286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102286
    reference: chr 3
allele count: 2
allele frequency: 1.859323578082294e-5
allele num: 107566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239791G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-39G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-39G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-184102303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102303
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102303
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 107920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239808G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-22G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-22G>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

3-184102303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102303
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102303
    reference: chr 3
allele count: 2
allele frequency: 1.853224610822832e-5
allele num: 107920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239808G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-22G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-22G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-184102312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102312
    reference: chr 3
allele count: 1
allele frequency: 9.235657024640733e-6
allele num: 108276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239817C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-13C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-13C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-184102313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102313
    reference: chr 3
allele count: 15
allele frequency: 1.384530182757984e-4
allele num: 108340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239818C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-12C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-12C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-184102317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102317
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102317
    reference: chr 3
allele count: 1
allele frequency: 9.210308176911599e-6
allele num: 108574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239822G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-8G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-8G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1441-8G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

3-184102318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102318
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102318
    reference: chr 3
allele count: 2
allele frequency: 1.840976453911154e-5
allele num: 108638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239823C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-7C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-7C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1441-7C>T
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-184102321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102321
    reference: chr 3
allele count: 1
allele frequency: 9.179533312526392e-6
allele num: 108938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239826C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-4C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-4C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1441-4C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-184102324-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102324
    reference: chr 3
allele count: 1
allele frequency: 9.158851113716295e-6
allele num: 109184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*359-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1182-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1321-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1441-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239829G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1597-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1441-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2464-1G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.331-1G>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25528
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1441-1G>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-184102327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102327
    reference: chr 3
allele count: 8
allele frequency: 7.312614259597807e-5
allele num: 109400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1599C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1443C>T
  hgvsp: ENST00000450923.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.333C>T
  hgvsp: ENST00000545352.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1184C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2466C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239832C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1443C>T
  hgvsp: ENST00000204604.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1323C>T
  hgvsp: ENST00000348986.3:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*361C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1443C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-184102341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102341
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102341
    reference: chr 3
allele count: 4
allele frequency: 3.608154429009562e-5
allele num: 110860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1457C>T
  hgvsp: ENSP00000408972.1:p.Pro486Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1457C>T
  hgvsp: ENSP00000204604.1:p.Pro486Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1198C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239846C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1337C>T
  hgvsp: ENSP00000334036.4:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2480C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.347C>T
  hgvsp: ENSP00000442948.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1613C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro486Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-184102348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102348
    reference: chr 3
allele count: 1
allele frequency: 8.948866178655165e-6
allele num: 111746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*382G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2487G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1344G>A
  hgvsp: ENST00000348986.3:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1464G>A
  hgvsp: ENST00000450923.1:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.354G>A
  hgvsp: ENST00000545352.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239853G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1620G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1464G>A
  hgvsp: ENST00000204604.1:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1205G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu488Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

3-184102349-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102349
    reference: chr 3
allele count: 1
allele frequency: 8.940865118108828e-6
allele num: 111846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1465G>T
  hgvsp: ENSP00000204604.1:p.Gly489Cys
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.355G>T
  hgvsp: ENSP00000442948.1:p.Gly119Cys
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1465G>T
  hgvsp: ENSP00000408972.1:p.Gly489Cys
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*383G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2488G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1206G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239854G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1621G>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1345G>T
  hgvsp: ENSP00000334036.4:p.Gly449Cys
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26427
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly489Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184102354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102354
    reference: chr 3
allele count: 1
allele frequency: 8.871225293637557e-6
allele num: 112724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1470C>T
  hgvsp: ENST00000204604.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1470C>T
  hgvsp: ENST00000450923.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2493C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.360C>T
  hgvsp: ENST00000545352.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1211C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239859C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1626C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1350C>T
  hgvsp: ENST00000348986.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*388C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala490Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-184102356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102356
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102356
    reference: chr 3
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1213G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1628G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*390G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1352G>A
  hgvsp: ENSP00000334036.4:p.Arg451Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1472G>A
  hgvsp: ENSP00000204604.1:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.362G>A
  hgvsp: ENSP00000442948.1:p.Arg121Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239861G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2495G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1472G>A
  hgvsp: ENSP00000408972.1:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11726
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg491Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

3-184102360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102360
    reference: chr 3
allele count: 1
allele frequency: 8.757794437048973e-6
allele num: 114184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.366G>A
  hgvsp: ENST00000545352.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1217G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239865G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1476G>A
  hgvsp: ENST00000204604.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1476G>A
  hgvsp: ENST00000450923.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1356G>A
  hgvsp: ENST00000348986.3:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1632G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*394G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2499G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly492Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184102362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102362
    reference: chr 3
allele count: 1
allele frequency: 8.727069624561465e-6
allele num: 114586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1358C>T
  hgvsp: ENSP00000334036.4:p.Ala453Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1219C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2501C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239867C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1478C>T
  hgvsp: ENSP00000204604.1:p.Ala493Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1478C>T
  hgvsp: ENSP00000408972.1:p.Ala493Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.368C>T
  hgvsp: ENSP00000442948.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1634C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala493Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-184102366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102366
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 115654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1362T>C
  hgvsp: ENST00000348986.3:c.1362T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1638T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*400T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1223T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1482T>C
  hgvsp: ENST00000204604.1:c.1482T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2505T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.372T>C
  hgvsp: ENST00000545352.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1482T>C
  hgvsp: ENST00000450923.1:c.1482T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239871T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His494His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-184102373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102373
    reference: chr 3
allele count: 1
allele frequency: 8.576182226719954e-6
allele num: 116602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.379C>T
  hgvsp: ENST00000545352.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1230C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1489C>T
  hgvsp: ENST00000450923.1:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1645C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239878C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1369C>T
  hgvsp: ENST00000348986.3:c.1369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*407C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1489C>T
  hgvsp: ENST00000204604.1:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2512C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu497Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-184102387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102387
    reference: chr 3
allele count: 1
allele frequency: 8.497620666213461e-6
allele num: 117680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1383C>T
  hgvsp: ENST00000348986.3:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2526C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.393C>T
  hgvsp: ENST00000545352.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*421C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1659C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1244C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1503C>T
  hgvsp: ENST00000450923.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1503C>T
  hgvsp: ENST00000204604.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239892C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu501Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-184102389-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102389
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102389
    reference: chr 3
allele count: 1
allele frequency: 8.492424757116652e-6
allele num: 117752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1385T>C
  hgvsp: ENSP00000334036.4:p.Phe462Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1505T>C
  hgvsp: ENSP00000408972.1:p.Phe502Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1246T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1661T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2528T>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1505T>C
  hgvsp: ENSP00000204604.1:p.Phe502Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.395T>C
  hgvsp: ENSP00000442948.1:p.Phe132Ser
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239894T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*423T>C
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29823
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe502Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-184102390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102390
    reference: chr 3
allele count: 1
allele frequency: 8.489540885628905e-6
allele num: 117792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1386C>T
  hgvsp: ENST00000348986.3:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*424C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2529C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.396C>T
  hgvsp: ENST00000545352.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1247C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1506C>T
  hgvsp: ENST00000204604.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1662C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1506C>T
  hgvsp: ENST00000450923.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239895C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe502Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-184102393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102393
    reference: chr 3
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2532G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*427G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1250G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1509G>A
  hgvsp: ENST00000450923.1:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1665G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1389G>A
  hgvsp: ENST00000348986.3:c.1389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239898G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.399G>A
  hgvsp: ENST00000545352.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1509G>A
  hgvsp: ENST00000204604.1:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu503Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-184102394-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102394
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102394
    reference: chr 3
allele count: 2
allele frequency: 1.695892548248143e-5
allele num: 117932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*428A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1251A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1510A>C
  hgvsp: ENSP00000408972.1:p.Asn504His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.400A>C
  hgvsp: ENSP00000442948.1:p.Asn134His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2533A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1510A>C
  hgvsp: ENSP00000204604.1:p.Asn504His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1390A>C
  hgvsp: ENSP00000334036.4:p.Asn464His
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1666A>C
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239899A>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn504His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-184102396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102396
    reference: chr 3
allele count: 12568
allele frequency: 1.059982457324067e-1
allele num: 118568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*430C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.402C>T
  hgvsp: ENST00000545352.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1392C>T
  hgvsp: ENST00000348986.3:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1512C>T
  hgvsp: ENST00000450923.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1512C>T
  hgvsp: ENST00000204604.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1253C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239901C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2535C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1668C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 4.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 2.25e1
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 9.75e1
  variant carriers: 8640
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 18730
  bin: 2.75e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Asn504Asn
num of homozygotes: 948
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

3-184102397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102397
    reference: chr 3
allele count: 2
allele frequency: 1.691074508742855e-5
allele num: 118268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*431G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1513G>A
  hgvsp: ENSP00000408972.1:p.Val505Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1393G>A
  hgvsp: ENSP00000334036.4:p.Val465Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2536G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.403G>A
  hgvsp: ENSP00000442948.1:p.Val135Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239902G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1513G>A
  hgvsp: ENSP00000204604.1:p.Val505Met
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1669G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1254G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val505Met
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-184102399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102399
    reference: chr 3
allele count: 1
allele frequency: 8.459521191100584e-6
allele num: 118210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.405G>A
  hgvsp: ENST00000545352.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*433G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1395G>A
  hgvsp: ENST00000348986.3:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1671G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1256G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239904G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1515G>A
  hgvsp: ENST00000204604.1:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1515G>A
  hgvsp: ENST00000450923.1:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2538G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val505Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-184102415-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102415
    reference: chr 3
allele count: 1
allele frequency: 8.505715841045183e-6
allele num: 117568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239920C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1411C>G
  hgvsp: ENSP00000334036.4:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.421C>G
  hgvsp: ENSP00000442948.1:p.Pro141Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*449C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1531C>G
  hgvsp: ENSP00000204604.1:p.Pro511Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2554C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1531C>G
  hgvsp: ENSP00000408972.1:p.Pro511Ala
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1687C>G
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1272C>G
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro511Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

3-184102420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102420
    reference: chr 3
allele count: 75
allele frequency: 6.420023625686943e-4
allele num: 116822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*454C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1692C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1536C>T
  hgvsp: ENST00000204604.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1536C>T
  hgvsp: ENST00000450923.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1416C>T
  hgvsp: ENST00000348986.3:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.426C>T
  hgvsp: ENST00000545352.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239925C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2559C>T
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1277C>T
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp512Asp
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

3-184102421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102421
    reference: chr 3
allele count: 2
allele frequency: 1.712299446927279e-5
allele num: 116802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.427G>A
  hgvsp: ENSP00000442948.1:p.Gly143Arg
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1693G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2560G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1417G>A
  hgvsp: ENSP00000334036.4:p.Gly473Arg
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239926G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1278G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1537G>A
  hgvsp: ENSP00000204604.1:p.Gly513Arg
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1537G>A
  hgvsp: ENSP00000408972.1:p.Gly513Arg
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*455G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly513Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-184102431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184102431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184102431
    reference: chr 3
allele count: 1
allele frequency: 8.642444774777888e-6
allele num: 115708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000392794
  ensembl transcript: ENST00000420973
  gene symbol: CHRD
  hgvsc: ENST00000420973.1:c.*465G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000204604
  ensembl transcript: ENST00000204604
  gene symbol: CHRD
  hgvsc: ENST00000204604.1:c.1547G>A
  hgvsp: ENSP00000204604.1:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000470150
  gene symbol: CHRD
  hgvsc: ENST00000470150.1:n.1703G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+239936G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090539
  ensembl transcript: ENST00000460627
  gene symbol: CHRD
  hgvsc: ENST00000460627.1:n.2570G>A
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000334036
  ensembl transcript: ENST00000348986
  gene symbol: CHRD
  hgvsc: ENST00000348986.3:c.1427G>A
  hgvsp: ENSP00000334036.4:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000442948
  ensembl transcript: ENST00000545352
  gene symbol: CHRD
  hgvsc: ENST00000545352.1:c.437G>A
  hgvsp: ENSP00000442948.1:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408972
  ensembl transcript: ENST00000450923
  gene symbol: CHRD
  hgvsc: ENST00000450923.1:c.1547G>A
  hgvsp: ENSP00000408972.1:p.Arg516Gln
  variant of: http://identifiers.org/hgnc/1949
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090539
  ensembl protein: ENSP00000408624
  ensembl transcript: ENST00000448472
  gene symbol: CHRD
  hgvsc: ENST00000448472.1:c.*1288G>A
  variant of: http://identifiers.org/hgnc/1949
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg516Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7194
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

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

African
type: Population
allele count: 18
allele frequency: 1.737787217609577e-3
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 1.887963e6

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.652e1

FS
type: SiteQuality
SIO_000300: 1.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.725e0

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 1.89045e6

MQ
type: SiteQuality
SIO_000300: 5.844e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
all individuals: 27104
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 309
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7174
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227747084100675e-4
allele num: 16290
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.894061e6

VQSLOD
type: SiteQuality
SIO_000300: -2.444e-1

FS
type: SiteQuality
SIO_000300: 8.696e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 4686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.899241e6

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.043e0

GenotypeQuality
all individuals: 450
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7172
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4679
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 1.233e0

DP
type: SiteQuality
SIO_000300: 1.90269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 4670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.902601e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.753e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.799e1

FS
type: SiteQuality
SIO_000300: 2.017e0

QD
type: SiteQuality
SIO_000300: 4.07e0

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7169
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3550
bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.027727546714889e-5
allele num: 66360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.902986e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.841e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3546
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.902716e6

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.796e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.556e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.884e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

DP
type: SiteQuality
SIO_000300: 1.902819e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.382e0

DP
type: SiteQuality
SIO_000300: 1.90291e6

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 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: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 5.039e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

QD
type: SiteQuality
SIO_000300: 7.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.903087e6

GenotypeQuality
all individuals: 3542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.902324e6

VQSLOD
type: SiteQuality
SIO_000300: -2.18e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.190311418685121e-4
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.468242957958863e-4
allele num: 66316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.793742757821553e-4
allele num: 10356
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.903417e6

FS
type: SiteQuality
SIO_000300: 1.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.265e1

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: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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QD
type: SiteQuality
SIO_000300: 1.211e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.899363e6

MQRankSum
type: SiteQuality
SIO_000300: -8.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019961948479449e-5
allele num: 66226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
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MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.898522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 7.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27734
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.537479581341884e-5
allele num: 66116
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.893632e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.268e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8657
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7158
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.866832607342875e-4
allele num: 16070
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 1.891189e6

FS
type: SiteQuality
SIO_000300: 3.271e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7158
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.489110143123833e-4
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.891189e6

FS
type: SiteQuality
SIO_000300: 3.271e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.071e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7151
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.888806e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

MQ
type: SiteQuality
SIO_000300: 5.771e1

MQRankSum
type: SiteQuality
SIO_000300: -1.412e0

GenotypeQuality
all individuals: 2929
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
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GenotypeQuality
all individuals: 4548
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.098e-1

FS
type: SiteQuality
SIO_000300: 2.661e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.847315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 1581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8286
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variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
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variant carriers: 0

GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24732
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.583e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

DP
type: SiteQuality
SIO_000300: 1.843625e6

MQ
type: SiteQuality
SIO_000300: 5.861e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.137e0

FS
type: SiteQuality
SIO_000300: 3.284e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
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GenotypeQuality
all individuals: 24594
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GenotypeQuality
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GenotypeQuality
all individuals: 126
bin: 4.75e1
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GenotypeQuality
all individuals: 8265
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 136
bin: 7.5e0
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GenotypeQuality
all individuals: 7131
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.9126559714795e-4
allele num: 14586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.163e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.839902e6

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

GenotypeQuality
all individuals: 4534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 7.25e1
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GenotypeQuality
all individuals: 285
bin: 3.75e1
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GenotypeQuality
all individuals: 130
bin: 4.75e1
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GenotypeQuality
all individuals: 30
bin: 2.5e0
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GenotypeQuality
all individuals: 3411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
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variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 24463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7167
bin: 9.75e1
variant carriers: 90

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535579374097847e-5
allele num: 65122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 87
allele frequency: 8.556254917387884e-3
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.892e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 1.839004e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8002
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1566
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3545
bin: 8.25e1
variant carriers: 4

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

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7362
bin: 9.75e1
variant carriers: 359

GenotypeQuality
all individuals: 796
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2110
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 22756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 1

South Asian
type: Population
allele count: 262
allele frequency: 1.936437546193644e-2
allele num: 13530
num of homozygotes: 8

African
type: Population
allele count: 3
allele frequency: 2.976190476190476e-4
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 1.47026960101526e-3
allele num: 64614
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.966587112171838e-3
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.397379912663755e-3
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 1.807471e6

FS
type: SiteQuality
SIO_000300: 2.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
all individuals: 948
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.770000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.556e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.788577e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.012e0

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

South Asian
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allele frequency: 0.0e0
allele num: 11902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.748269e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.012e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573514602215509e-5
allele num: 63552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 6.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.739051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.553e0

QD
type: SiteQuality
SIO_000300: 1.495e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.481e0

VQSLOD
type: SiteQuality
SIO_000300: -6.371e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 3
allele frequency: 2.621461027612723e-4
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

DP
type: SiteQuality
SIO_000300: 1.724945e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578731331502005e-5
allele num: 63342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.813e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.716699e6

VQSLOD
type: SiteQuality
SIO_000300: -6.672e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013581998783702e-4
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
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: 8530
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.711e0

BaseQRankSum
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.34e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 2.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
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South Asian
type: Population
allele count: 1
allele frequency: 8.93814801573114e-5
allele num: 11188
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.889e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 263

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 5
allele frequency: 5.08646998982706e-4
allele num: 9830
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.705139765554554e-4
allele num: 11090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 217
allele frequency: 3.437569305832779e-3
allele num: 63126
num of homozygotes: 2

Latino
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allele count: 7
allele frequency: 6.143584342636476e-4
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
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European (Finnish)
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allele count: 33
allele frequency: 5.251432208784214e-3
allele num: 6284
num of homozygotes: 0

Other
type: Population
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allele frequency: 3.787878787878788e-3
allele num: 792
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VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2076
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.170577045022194e-5
allele num: 63080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 1.181e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

DP
type: SiteQuality
SIO_000300: 1.686197e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 30

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.932982166656089e-5
allele num: 63028
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.392901071867861e-4
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.144169899938738e-3
allele num: 9794
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.677853e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.417e-1

DP
type: SiteQuality
SIO_000300: 1.66937e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1760
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.647443e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

QD
type: SiteQuality
SIO_000300: 1.13e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

GenotypeQuality
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bin: 3.75e1
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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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 24401
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064056182166418e-4
allele num: 9398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.850601474582848e-5
allele num: 61848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.705749e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.216275984077842e-3
allele num: 9044
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 2.705742e6

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.72e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
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African
type: Population
allele count: 2
allele frequency: 2.123593119558293e-4
allele num: 9418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.993e0

FS
type: SiteQuality
SIO_000300: 1.235e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 2.706925e6

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.231957596716331e-5
allele num: 61882
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 3.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 2.707874e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62056
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.717998e6

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.378121284185493e-4
allele num: 8410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: 8.76e-1

ClippingRankSum
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SIO_000300: -6.4e-2

FS
type: SiteQuality
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DP
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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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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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.082485386447283e-4
allele num: 9238
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.195e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 9264
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.445876040227485e-4
allele num: 62246
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11440
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African
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allele frequency: 6.269592476489029e-4
allele num: 9570
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
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DP
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SIO_000300: 2.726491e6

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

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 9388
num of homozygotes: 0

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

African
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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
allele num: 62314
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Latino
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.726752e6

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 9608
num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62336
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East Asian
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allele frequency: 0.0e0
allele num: 8440
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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MQ
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ClippingRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 62580
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East Asian
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Other
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European (Finnish)
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allele frequency: 1.059322033898305e-3
allele num: 6608
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African
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South Asian
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Latino
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11733
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.337738061285928e-5
allele num: 63114
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.746725e6

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 7711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578133383833602e-5
allele num: 63366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 2.753127e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 2.674e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 4330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2755
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.753862e6

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 4.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e0

QD
type: SiteQuality
SIO_000300: 1.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
all individuals: 11727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571240022625856e-5
allele num: 63644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 2.761103e6

GenotypeQuality
all individuals: 3888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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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: 2308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.326394671107411e-5
allele num: 12010
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.912e1

DP
type: SiteQuality
SIO_000300: 2.767297e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.407e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 6.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.865e-1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 11725
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GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 2310
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GenotypeQuality
all individuals: 1681
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27856
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 7821
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559138108453647e-5
allele num: 64138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.775402e6

FS
type: SiteQuality
SIO_000300: 4.982e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.498e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 848
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 86
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
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GenotypeQuality
all individuals: 11724
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.779948e6

FS
type: SiteQuality
SIO_000300: 4.785e0

QD
type: SiteQuality
SIO_000300: 1.049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 2.789051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
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GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 2414
bin: 2.25e1
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GenotypeQuality
all individuals: 71
bin: 4.25e1
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GenotypeQuality
all individuals: 1683
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GenotypeQuality
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GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 29294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11725
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540974512281567e-5
allele num: 64894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.798224e6

FS
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11726
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.807025e6

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 2.434e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

GenotypeQuality
all individuals: 1695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11725
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531956614988664e-5
allele num: 65276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.807353e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

GenotypeQuality
all individuals: 666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
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GenotypeQuality
all individuals: 1691
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531675039823551e-5
allele num: 65288
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.807602e6

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 3.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.284e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 2.0e1

GenotypeQuality
all individuals: 1866
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
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GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
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GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531252871099133e-5
allele num: 65306
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.287e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 7.14e0

DP
type: SiteQuality
SIO_000300: 2.808698e6

FS
type: SiteQuality
SIO_000300: 3.491e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11723
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530830935031535e-5
allele num: 65324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 2.808527e6

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e0

QD
type: SiteQuality
SIO_000300: 1.488e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2741
bin: 7.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1500
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 13146
bin: 9.75e1
variant carriers: 11432

GenotypeQuality
all individuals: 2294
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 7817
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 29159
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1654
bin: 8.25e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 5151
allele frequency: 7.86340182578695e-2
allele num: 65506
num of homozygotes: 185

African
type: Population
allele count: 412
allele frequency: 4.024223481148662e-2
allele num: 10238
num of homozygotes: 10

Latino
type: Population
allele count: 3069
allele frequency: 2.658523908523909e-1
allele num: 11544
num of homozygotes: 425

Other
type: Population
allele count: 66
allele frequency: 7.5e-2
allele num: 880
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 370
allele frequency: 5.597579425113464e-2
allele num: 6610
num of homozygotes: 12

East Asian
type: Population
allele count: 1695
allele frequency: 1.969098513011152e-1
allele num: 8608
num of homozygotes: 187

South Asian
type: Population
allele count: 1805
allele frequency: 1.188907917270452e-1
allele num: 15182
num of homozygotes: 123

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.796374e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

QD
type: SiteQuality
SIO_000300: 1.593e1

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.337434800053497e-4
allele num: 14954
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.768987e6

FS
type: SiteQuality
SIO_000300: 5.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 991
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14924
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528818223513224e-5
allele num: 65410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 2.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.767892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

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

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.863417982155113e-5
allele num: 14570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.846e0

QD
type: SiteQuality
SIO_000300: 2.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.756156e6

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 9.75e1
variant carriers: 74

GenotypeQuality
all individuals: 986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33869
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 1.061865189289012e-3
allele num: 64980
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 1.971220185294697e-4
allele num: 10146
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.605976372480889e-4
allele num: 11512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74254e6

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 2.753e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

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

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07815433865854e-5
allele num: 64974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.169e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.7374e6