3-184002749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002749
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002749
    reference: chr 3
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.982-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1360-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1006-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1045-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.776-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.919-2A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140254A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1144-2A>G
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1360-2A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-184002758-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002758
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002758
    reference: chr 3
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.783C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1052C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1151C>A
  hgvsp: ENSP00000350066.5:p.Ala384Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.989C>A
  hgvsp: ENSP00000398444.1:p.Ala330Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140263C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.926C>A
  hgvsp: ENSP00000352052.4:p.Ala309Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1013C>A
  hgvsp: ENSP00000385846.3:p.Ala338Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1367C>A
  hgvsp: ENSP00000384223.3:p.Ala456Glu
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala456Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-184002758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002758
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002758
    reference: chr 3
allele count: 3
allele frequency: 2.485460058656858e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.783C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1367C>T
  hgvsp: ENSP00000384223.3:p.Ala456Val
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1052C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1151C>T
  hgvsp: ENSP00000350066.5:p.Ala384Val
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140263C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.926C>T
  hgvsp: ENSP00000352052.4:p.Ala309Val
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1013C>T
  hgvsp: ENSP00000385846.3:p.Ala338Val
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.989C>T
  hgvsp: ENSP00000398444.1:p.Ala330Val
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala456Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

3-184002759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002759
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002759
    reference: chr 3
allele count: 21
allele frequency: 1.737921445950643e-4
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1014G>A
  hgvsp: ENST00000404464.3:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.990G>A
  hgvsp: ENST00000430587.1:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.784G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140264G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1152G>A
  hgvsp: ENST00000357474.5:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.927G>A
  hgvsp: ENST00000359140.4:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1053G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1368G>A
  hgvsp: ENST00000402825.3:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala456Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-184002761-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002761
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002761
    reference: chr 3
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
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+140266C>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1055C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1016C>A
  hgvsp: ENSP00000385846.3:p.Pro339His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.929C>A
  hgvsp: ENSP00000352052.4:p.Pro310His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1154C>A
  hgvsp: ENSP00000350066.5:p.Pro385His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.786C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.992C>A
  hgvsp: ENSP00000398444.1:p.Pro331His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1370C>A
  hgvsp: ENSP00000384223.3:p.Pro457His
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro457His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-184002769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002769
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002769
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1162G>A
  hgvsp: ENSP00000350066.5:p.Asp388Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1000G>A
  hgvsp: ENSP00000398444.1:p.Asp334Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1063G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.794G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140274G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.937G>A
  hgvsp: ENSP00000352052.4:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1024G>A
  hgvsp: ENSP00000385846.3:p.Asp342Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1378G>A
  hgvsp: ENSP00000384223.3:p.Asp460Asn
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15427
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp460Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-184002775-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002775
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002775
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.800C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.943C>A
  hgvsp: ENSP00000352052.4:p.Leu315Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1030C>A
  hgvsp: ENSP00000385846.3:p.Leu344Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1168C>A
  hgvsp: ENSP00000350066.5:p.Leu390Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140280C>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1069C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1384C>A
  hgvsp: ENSP00000384223.3:p.Leu462Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1006C>A
  hgvsp: ENSP00000398444.1:p.Leu336Ile
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu462Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-184002778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002778
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002778
    reference: chr 3
allele count: 14
allele frequency: 1.163544488954638e-4
allele num: 120322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1009G>T
  hgvsp: ENSP00000398444.1:p.Glu337Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1171G>T
  hgvsp: ENSP00000350066.5:p.Glu391Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140283G>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1072G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.803G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1033G>T
  hgvsp: ENSP00000385846.3:p.Glu345Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1387G>T
  hgvsp: ENSP00000384223.3:p.Glu463Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.946G>T
  hgvsp: ENSP00000352052.4:p.Glu316Ter
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17309
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu463Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-184002804-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002804
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1413A>C
  hgvsp: ENST00000402825.3:c.1413A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.972A>C
  hgvsp: ENST00000359140.4:c.972A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1035A>C
  hgvsp: ENST00000430587.1:c.1035A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1197A>C
  hgvsp: ENST00000357474.5:c.1197A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1059A>C
  hgvsp: ENST00000404464.3:c.1059A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1098A>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140309A>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.829A>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro471Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184002804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002804
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1059A>G
  hgvsp: ENST00000404464.3:c.1059A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.972A>G
  hgvsp: ENST00000359140.4:c.972A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140309A>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1098A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1197A>G
  hgvsp: ENST00000357474.5:c.1197A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.829A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1035A>G
  hgvsp: ENST00000430587.1:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1413A>G
  hgvsp: ENST00000402825.3:c.1413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro471Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-184002832-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002832
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002832
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1126G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1087G>T
  hgvsp: ENSP00000385846.3:p.Val363Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1000G>T
  hgvsp: ENSP00000352052.4:p.Val334Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1225G>T
  hgvsp: ENSP00000350066.5:p.Val409Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1063G>T
  hgvsp: ENSP00000398444.1:p.Val355Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1441G>T
  hgvsp: ENSP00000384223.3:p.Val481Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140337G>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.857G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15539
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val481Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

3-184002836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002836
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002836
    reference: chr 3
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1130T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.861T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140341T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1091T>C
  hgvsp: ENSP00000385846.3:p.Val364Ala
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1067T>C
  hgvsp: ENSP00000398444.1:p.Val356Ala
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1445T>C
  hgvsp: ENSP00000384223.3:p.Val482Ala
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1229T>C
  hgvsp: ENSP00000350066.5:p.Val410Ala
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1004T>C
  hgvsp: ENSP00000352052.4:p.Val335Ala
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val482Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-184002862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002862
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002862
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1156G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1471G>A
  hgvsp: ENSP00000384223.3:p.Val491Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1030G>A
  hgvsp: ENSP00000352052.4:p.Val344Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1093G>A
  hgvsp: ENSP00000398444.1:p.Val365Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140367G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1117G>A
  hgvsp: ENSP00000385846.3:p.Val373Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.887G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1255G>A
  hgvsp: ENSP00000350066.5:p.Val419Met
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val491Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-184002862-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002862
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002862
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1093G>T
  hgvsp: ENSP00000398444.1:p.Val365Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1117G>T
  hgvsp: ENSP00000385846.3:p.Val373Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1255G>T
  hgvsp: ENSP00000350066.5:p.Val419Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1030G>T
  hgvsp: ENSP00000352052.4:p.Val344Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1156G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1471G>T
  hgvsp: ENSP00000384223.3:p.Val491Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140367G>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.887G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val491Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

3-184002871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002871
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002871
    reference: chr 3
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1165C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1102C>T
  hgvsp: ENSP00000398444.1:p.Leu368Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.896C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1039C>T
  hgvsp: ENSP00000352052.4:p.Leu347Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1264C>T
  hgvsp: ENSP00000350066.5:p.Leu422Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1480C>T
  hgvsp: ENSP00000384223.3:p.Leu494Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1126C>T
  hgvsp: ENSP00000385846.3:p.Leu376Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140376C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu494Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-184002873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002873
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002873
    reference: chr 3
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1167C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1104C>T
  hgvsp: ENST00000430587.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.898C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1266C>T
  hgvsp: ENST00000357474.5:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1041C>T
  hgvsp: ENST00000359140.4:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140378C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1128C>T
  hgvsp: ENST00000404464.3:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1482C>T
  hgvsp: ENST00000402825.3:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14772
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu494Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-184002880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002880
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002880
    reference: chr 3
allele count: 6
allele frequency: 4.977105315548477e-5
allele num: 120552
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+140385C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1111C>T
  hgvsp: ENSP00000398444.1:p.Arg371Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.905C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1174C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1048C>T
  hgvsp: ENSP00000352052.4:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1135C>T
  hgvsp: ENSP00000385846.3:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1273C>T
  hgvsp: ENSP00000350066.5:p.Arg425Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1489C>T
  hgvsp: ENSP00000384223.3:p.Arg497Cys
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18013
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg497Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-184002881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002881
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002881
    reference: chr 3
allele count: 3
allele frequency: 2.488552657774238e-5
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1112G>A
  hgvsp: ENSP00000398444.1:p.Arg371His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1049G>A
  hgvsp: ENSP00000352052.4:p.Arg350His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1490G>A
  hgvsp: ENSP00000384223.3:p.Arg497His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1274G>A
  hgvsp: ENSP00000350066.5:p.Arg425His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.906G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1175G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1136G>A
  hgvsp: ENSP00000385846.3:p.Arg379His
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140386G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg497His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-184002881-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002881
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002881
    reference: chr 3
allele count: 2
allele frequency: 1.659035105182826e-5
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1274G>T
  hgvsp: ENSP00000350066.5:p.Arg425Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140386G>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.906G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1490G>T
  hgvsp: ENSP00000384223.3:p.Arg497Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1112G>T
  hgvsp: ENSP00000398444.1:p.Arg371Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1175G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1136G>T
  hgvsp: ENSP00000385846.3:p.Arg379Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1049G>T
  hgvsp: ENSP00000352052.4:p.Arg350Leu
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg497Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-184002884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002884
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002884
    reference: chr 3
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1052C>T
  hgvsp: ENSP00000352052.4:p.Thr351Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1493C>T
  hgvsp: ENSP00000384223.3:p.Thr498Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1139C>T
  hgvsp: ENSP00000385846.3:p.Thr380Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.909C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1178C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140389C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1277C>T
  hgvsp: ENSP00000350066.5:p.Thr426Met
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1115C>T
  hgvsp: ENSP00000398444.1:p.Thr372Met
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18018
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr498Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-184002885-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002885
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002885
    reference: chr 3
allele count: 3
allele frequency: 2.492481015602931e-5
allele num: 120362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1053G>C
  hgvsp: ENST00000359140.4:c.1053G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1278G>C
  hgvsp: ENST00000357474.5:c.1278G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1116G>C
  hgvsp: ENST00000430587.1:c.1116G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1179G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1494G>C
  hgvsp: ENST00000402825.3:c.1494G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140390G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1140G>C
  hgvsp: ENST00000404464.3:c.1140G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.910G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr498Thr
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-184002896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002896
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002896
    reference: chr 3
allele count: 2
allele frequency: 1.668696914579405e-5
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+3G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140401G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1502+3G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-184002897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002897
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002897
    reference: chr 3
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140402T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+4T>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+4T>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18021
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1502+4T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-184002898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002898
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002898
    reference: chr 3
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140403G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+5G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+5G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1502+5G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

3-184002898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002898
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002898
    reference: chr 3
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140403G>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+5G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+5G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1502+5G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-184002902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002902
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002902
    reference: chr 3
allele count: 2
allele frequency: 1.672968180145214e-5
allele num: 119548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140407G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+9G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+9G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

3-184002907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002907
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002907
    reference: chr 3
allele count: 3
allele frequency: 2.513489057944301e-5
allele num: 119356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140412C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+14C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+14C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18024
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-184002912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002912
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002912
    reference: chr 3
allele count: 1
allele frequency: 8.395741679819996e-6
allele num: 119108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140417G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+19G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+19G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-184002912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002912
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002912
    reference: chr 3
allele count: 8
allele frequency: 6.716593343855997e-5
allele num: 119108
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140417G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+19G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+19G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-184002916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002916
    reference: chr 3
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140421G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+23G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+23G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

3-184002922-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002922
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002922
    reference: chr 3
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140427G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+29G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+29G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

3-184002924-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002924
    reference: chr 3
allele count: 1
allele frequency: 8.454943605526151e-6
allele num: 118274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140429T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+31T>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+31T>G
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-184002927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002927
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002927
    reference: chr 3
allele count: 3
allele frequency: 2.537598754884877e-5
allele num: 118222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140432G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+34G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+34G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18033
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

3-184002929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002929
    reference: chr 3
allele count: 1
allele frequency: 8.467687305243193e-6
allele num: 118096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1286+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1502+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.918+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1187+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1124+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1061+36G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140434G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1148+36G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

3-184002942-AAGGCTGGGCATAATGGAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184002942
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184002924
    reference: chr 3
allele count: 1
allele frequency: 8.540730744922536e-6
allele num: 117086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: AAGGCTGGGCATAATGGAC
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-184003223-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003223
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003223
    reference: chr 3
allele count: 86
allele frequency: 7.275188224346502e-4
allele num: 118210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140728G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-43G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-43G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17285
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

3-184003228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003228
    reference: chr 3
allele count: 1
allele frequency: 8.442380751371886e-6
allele num: 118450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-38C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140733C>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-184003235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003235
    reference: chr 3
allele count: 2
allele frequency: 1.679740648043942e-5
allele num: 119066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140740C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-31C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-31C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-184003236-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003236
    reference: chr 3
allele count: 2
allele frequency: 1.67709259228202e-5
allele num: 119254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-30C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140741C>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-184003242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003242
    reference: chr 3
allele count: 3
allele frequency: 2.502335513145603e-5
allele num: 119888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-24C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140747C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-24C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-184003245-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003245
    reference: chr 3
allele count: 3
allele frequency: 2.494802494802495e-5
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-21A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140750A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-21A>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-184003245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003245
    reference: chr 3
allele count: 17
allele frequency: 1.413721413721414e-4
allele num: 120250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140750A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-21A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-21A>G
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17070
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-184003258-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003258
    reference: chr 3
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-8G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140763G>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1503-8G>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

3-184003261-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003261
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003261
    reference: chr 3
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1125-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1287-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1503-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1062-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1149-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140766G>T
  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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1188-5G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.919-5G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1503-5G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-184003270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003270
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003270
    reference: chr 3
allele count: 14
allele frequency: 1.153934918070621e-4
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1129C>T
  hgvsp: ENST00000430587.1:c.1129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1153C>T
  hgvsp: ENST00000404464.3:c.1153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140775C>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1192C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1291C>T
  hgvsp: ENST00000357474.5:c.1291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1066C>T
  hgvsp: ENST00000359140.4:c.1066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1507C>T
  hgvsp: ENST00000402825.3:c.1507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.923C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu503Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-184003290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003290
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003290
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1212G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1086G>A
  hgvsp: ENSP00000352052.4:p.Trp362Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140795G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1149G>A
  hgvsp: ENSP00000398444.1:p.Trp383Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.943G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1527G>A
  hgvsp: ENSP00000384223.3:p.Trp509Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1311G>A
  hgvsp: ENSP00000350066.5:p.Trp437Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1173G>A
  hgvsp: ENSP00000385846.3:p.Trp391Ter
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp509Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/3-184003304-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003304
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003304
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1163A>C
  hgvsp: ENSP00000398444.1:p.Lys388Thr
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.957A>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1187A>C
  hgvsp: ENSP00000385846.3:p.Lys396Thr
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1325A>C
  hgvsp: ENSP00000350066.5:p.Lys442Thr
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1541A>C
  hgvsp: ENSP00000384223.3:p.Lys514Thr
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140809A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1100A>C
  hgvsp: ENSP00000352052.4:p.Lys367Thr
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1226A>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys514Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

3-184003309-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003309
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.962A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1192A>T
  hgvsp: ENSP00000385846.3:p.Thr398Ser
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1231A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1168A>T
  hgvsp: ENSP00000398444.1:p.Thr390Ser
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1546A>T
  hgvsp: ENSP00000384223.3:p.Thr516Ser
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1330A>T
  hgvsp: ENSP00000350066.5:p.Thr444Ser
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1105A>T
  hgvsp: ENSP00000352052.4:p.Thr369Ser
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140814A>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr516Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-184003313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003313
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1334C>T
  hgvsp: ENSP00000350066.5:p.Ser445Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1550C>T
  hgvsp: ENSP00000384223.3:p.Ser517Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1196C>T
  hgvsp: ENSP00000385846.3:p.Ser399Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1109C>T
  hgvsp: ENSP00000352052.4:p.Ser370Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1172C>T
  hgvsp: ENSP00000398444.1:p.Ser391Leu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140818C>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1235C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.966C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser517Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-184003317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003317
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003317
    reference: chr 3
allele count: 511
allele frequency: 4.208948339483395e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1176C>T
  hgvsp: ENST00000430587.1:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1554C>T
  hgvsp: ENST00000402825.3:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.970C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1200C>T
  hgvsp: ENST00000404464.3:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1239C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1338C>T
  hgvsp: ENST00000357474.5:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140822C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1113C>T
  hgvsp: ENST00000359140.4:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17611
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31852
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser518Ser
num of homozygotes: 13
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-184003324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003324
    reference: chr 3
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1246C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140829C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1561C>T
  hgvsp: ENSP00000384223.3:p.Arg521Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1207C>T
  hgvsp: ENSP00000385846.3:p.Arg403Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.977C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1183C>T
  hgvsp: ENSP00000398444.1:p.Arg395Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1345C>T
  hgvsp: ENSP00000350066.5:p.Arg449Ter
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1120C>T
  hgvsp: ENSP00000352052.4:p.Arg374Ter
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg521Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

3-184003325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003325
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1208G>A
  hgvsp: ENSP00000385846.3:p.Arg403Gln
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1346G>A
  hgvsp: ENSP00000350066.5:p.Arg449Gln
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1184G>A
  hgvsp: ENSP00000398444.1:p.Arg395Gln
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140830G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1562G>A
  hgvsp: ENSP00000384223.3:p.Arg521Gln
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1121G>A
  hgvsp: ENSP00000352052.4:p.Arg374Gln
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1247G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.978G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg521Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-184003327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003327
    reference: chr 3
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
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+140832C>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.980C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1564C>T
  hgvsp: ENSP00000384223.3:p.Arg522Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1210C>T
  hgvsp: ENSP00000385846.3:p.Arg404Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1123C>T
  hgvsp: ENSP00000352052.4:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1186C>T
  hgvsp: ENSP00000398444.1:p.Arg396Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1348C>T
  hgvsp: ENSP00000350066.5:p.Arg450Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1249C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg522Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/3-184003341-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003341
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003341
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1362A>C
  hgvsp: ENST00000357474.5:c.1362A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1137A>C
  hgvsp: ENST00000359140.4:c.1137A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1200A>C
  hgvsp: ENST00000430587.1:c.1200A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1224A>C
  hgvsp: ENST00000404464.3:c.1224A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1578A>C
  hgvsp: ENST00000402825.3:c.1578A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1263A>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.994A>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140846A>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8132
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala526Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-184003342-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003342
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.995C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1363C>G
  hgvsp: ENSP00000350066.5:p.Gln455Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1225C>G
  hgvsp: ENSP00000385846.3:p.Gln409Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1201C>G
  hgvsp: ENSP00000398444.1:p.Gln401Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1138C>G
  hgvsp: ENSP00000352052.4:p.Gln380Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1579C>G
  hgvsp: ENSP00000384223.3:p.Gln527Glu
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1264C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140847C>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln527Glu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-184003367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003367
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1226A>G
  hgvsp: ENSP00000398444.1:p.Tyr409Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1388A>G
  hgvsp: ENSP00000350066.5:p.Tyr463Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1020A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1163A>G
  hgvsp: ENSP00000352052.4:p.Tyr388Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1604A>G
  hgvsp: ENSP00000384223.3:p.Tyr535Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1289A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1250A>G
  hgvsp: ENSP00000385846.3:p.Tyr417Cys
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140872A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr535Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-184003367-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003367
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1250A>T
  hgvsp: ENSP00000385846.3:p.Tyr417Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1226A>T
  hgvsp: ENSP00000398444.1:p.Tyr409Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1020A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1388A>T
  hgvsp: ENSP00000350066.5:p.Tyr463Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1289A>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1163A>T
  hgvsp: ENSP00000352052.4:p.Tyr388Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1604A>T
  hgvsp: ENSP00000384223.3:p.Tyr535Phe
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140872A>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr535Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-184003373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003373
    reference: chr 3
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1394C>T
  hgvsp: ENSP00000350066.5:p.Thr465Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1295C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1256C>T
  hgvsp: ENSP00000385846.3:p.Thr419Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1610C>T
  hgvsp: ENSP00000384223.3:p.Thr537Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1232C>T
  hgvsp: ENSP00000398444.1:p.Thr411Ile
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140878C>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: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1026C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1169C>T
  hgvsp: ENSP00000352052.4:p.Thr390Ile
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr537Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-184003377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003377
    reference: chr 3
allele count: 35
allele frequency: 2.886359887844301e-4
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1299G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140882G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1173G>A
  hgvsp: ENST00000359140.4:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1260G>A
  hgvsp: ENST00000404464.3:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1398G>A
  hgvsp: ENST00000357474.5:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1614G>A
  hgvsp: ENST00000402825.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1236G>A
  hgvsp: ENST00000430587.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1030G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys538Lys
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-184003377-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003377
    reference: chr 3
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140882G>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: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1299G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1173G>C
  hgvsp: ENSP00000352052.4:p.Lys391Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1614G>C
  hgvsp: ENSP00000384223.3:p.Lys538Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1398G>C
  hgvsp: ENSP00000350066.5:p.Lys466Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1260G>C
  hgvsp: ENSP00000385846.3:p.Lys420Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1236G>C
  hgvsp: ENSP00000398444.1:p.Lys412Asn
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1030G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys538Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-184003381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003381
    reference: chr 3
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140886G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+1G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+1G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1617+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-184003386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003386
    reference: chr 3
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+6C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140891C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+6C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1617+6C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-184003393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003393
    reference: chr 3
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140898A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+13A>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+13A>G
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-184003398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003398
    reference: chr 3
allele count: 4
allele frequency: 3.313123281317298e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140903G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+18G>C
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+18G>C
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7596
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-184003400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003400
    reference: chr 3
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
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+140905C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+20C>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+20C>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-184003405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003405
    reference: chr 3
allele count: 2
allele frequency: 1.659916340216453e-5
allele num: 120488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140910C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+25C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+25C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-184003409-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003408
    reference: chr 3
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+30delT
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140915delT
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: CT
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-184003419-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003419
    reference: chr 3
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140924C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+39C>G
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+39C>G
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15247
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

3-184003424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003424
    reference: chr 3
allele count: 7
allele frequency: 5.851668561492677e-5
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140929C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+44C>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+44C>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-184003425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003425
    reference: chr 3
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+45G>A
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140930G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+45G>A
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-184003425-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184003425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184003425
    reference: chr 3
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000384223
  ensembl transcript: ENST00000402825
  gene symbol: ECE2
  hgvsc: ENST00000402825.3:c.1617+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+140930G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000490579
  gene symbol: ECE2
  hgvsc: ENST00000490579.1:n.1033+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000398444
  ensembl transcript: ENST00000430587
  gene symbol: ECE2
  hgvsc: ENST00000430587.1:c.1239+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000352052
  ensembl transcript: ENST00000359140
  gene symbol: ECE2
  hgvsc: ENST00000359140.4:c.1176+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000350066
  ensembl transcript: ENST00000357474
  gene symbol: ECE2
  hgvsc: ENST00000357474.5:c.1401+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl protein: ENSP00000385846
  ensembl transcript: ENST00000404464
  gene symbol: ECE2
  hgvsc: ENST00000404464.3:c.1263+45G>T
  variant of: http://identifiers.org/hgnc/13275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145194
  ensembl transcript: ENST00000488401
  gene symbol: ECE2
  hgvsc: ENST00000488401.1:n.1302+45G>T
  variant of: http://identifiers.org/hgnc/13275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 5432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17529
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 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: 1
allele frequency: 6.405329233922624e-5
allele num: 15612
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: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.989024e6

FS
type: SiteQuality
SIO_000300: 3.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

VQSLOD
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5447
bin: 7.75e1
variant carriers: 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: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.695e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 2.001381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

GenotypeQuality
all individuals: 6074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17532
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.695e0

QD
type: SiteQuality
SIO_000300: 1.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 2.001381e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17548
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 15
allele frequency: 1.443695861405197e-3
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.780346820809249e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.003395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 5453
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4029
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
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: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.948e0

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 2.004738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17547
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
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: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.362e0

FS
type: SiteQuality
SIO_000300: 7.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.012646e6

GenotypeQuality
all individuals: 6131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5440
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 1.461e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -8.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.073e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.015357e6

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15173
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2781
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20721917064043e-4
allele num: 66268
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: 3
allele frequency: 4.705144291091593e-4
allele num: 6376
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.956564273136372e-4
allele num: 10222
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 2.043239e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.997e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 8.785899999999999e1

VQSLOD
type: SiteQuality
SIO_000300: -3.655e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

GenotypeQuality
all individuals: 3532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5435
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 2842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18006
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.502e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

FS
type: SiteQuality
SIO_000300: 8.125e0

VQSLOD
type: SiteQuality
SIO_000300: -3.108e-1

DP
type: SiteQuality
SIO_000300: 2.038185e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

DP
type: SiteQuality
SIO_000300: 2.038185e6

FS
type: SiteQuality
SIO_000300: 8.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.049e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.924e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 2.038431e6

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: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.2169e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 2.038442e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 2.036877e6

FS
type: SiteQuality
SIO_000300: 6.184e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.774e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

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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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.6e0

FS
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.033125e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-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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bin: 8.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.173601679219657e-5
allele num: 16198
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 2.030689e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.523775129408932e-5
allele num: 66456
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 6.2672348959639e-5
allele num: 15956
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Other
type: Population
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allele num: 900
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DP
type: SiteQuality
SIO_000300: 2.024149e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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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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variant carriers: 3

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009691205682297e-5
allele num: 66452
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.024337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.703e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

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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bin: 9.75e1
variant carriers: 2

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: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.009691205682297e-5
allele num: 66452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

BaseQRankSum
type: SiteQuality
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QD
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MQ
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SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.259445843828715e-4
allele num: 15880
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 1.039e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 4.967e0

DP
type: SiteQuality
SIO_000300: 2.021218e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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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: 900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 9.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 2.019421e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.648e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e0

FS
type: SiteQuality
SIO_000300: 4.335e0

QD
type: SiteQuality
SIO_000300: 1.109e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 15430
num of homozygotes: 0

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10396
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.979936642027455e-4
allele num: 15152
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 1.994185e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

GenotypeQuality
all individuals: 2838
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 8648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 1.988691e6

QD
type: SiteQuality
SIO_000300: 1.261e1

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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.849855630413859e-4
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028742768876639e-5
allele num: 66034
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.988691e6

FS
type: SiteQuality
SIO_000300: 1.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
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: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.109e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

FS
type: SiteQuality
SIO_000300: 1.0151e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.986873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 2840
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2327
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variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.982161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10843
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 18031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 10382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.75e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.980283e6

FS
type: SiteQuality
SIO_000300: 2.562e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -3.776e-1

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5662
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55857772375019e-5
allele num: 65810
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: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.979974e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.173e-1

FS
type: SiteQuality
SIO_000300: 8.625999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 14236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.978911e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 5.709e1

FS
type: SiteQuality
SIO_000300: 2.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-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
all individuals: 3464
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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: 0
allele frequency: 0.0e0
allele num: 13510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.974267e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.808e0

FS
type: SiteQuality
SIO_000300: 1.0069e1

MQ
type: SiteQuality
SIO_000300: 5.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.527e0

GenotypeQuality
all individuals: 1653
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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
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 1255
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 86

GenotypeQuality
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GenotypeQuality
all individuals: 3047
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.224289911851126e-4
allele num: 8168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
num of homozygotes: 0

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

South Asian
type: Population
allele count: 83
allele frequency: 5.139955412434977e-3
allele num: 16148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.854258898530193e-5
allele num: 11294
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.644574e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.255e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.676312e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

QD
type: SiteQuality
SIO_000300: 1.475e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.927e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227596366314756e-4
allele num: 16292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.715972e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.365e0

FS
type: SiteQuality
SIO_000300: 3.002e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

DP
type: SiteQuality
SIO_000300: 1.721004e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0333363666697e-5
allele num: 65934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.738504e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.456e1

FS
type: SiteQuality
SIO_000300: 2.9426e1

MQRankSum
type: SiteQuality
SIO_000300: -1.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.266e0

VQSLOD
type: SiteQuality
SIO_000300: -6.907e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024437454633438e-5
allele num: 66128
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.3958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

DP
type: SiteQuality
SIO_000300: 1.745326e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 66128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.754907938056335e-4
allele num: 16402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.3958e1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.745326e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.45e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-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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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.759535e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

FS
type: SiteQuality
SIO_000300: 3.056e0

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.601e0

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.903e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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: 13
allele frequency: 7.876878332525448e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.763412e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
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bin: 2.5e0
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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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 1.764337e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.687e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.327e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 3.525e0

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: 1

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: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 1.764648e6

FS
type: SiteQuality
SIO_000300: 1.266e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.792e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.127e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 1.764746e6

FS
type: SiteQuality
SIO_000300: 1.509e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 6.63e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7585
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GenotypeQuality
all individuals: 2748
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.764819e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 496

East Asian
type: Population
allele count: 24
allele frequency: 2.773284030506125e-3
allele num: 8654
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: 472
allele frequency: 4.076697184315081e-2
allele num: 11578
num of homozygotes: 12

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348597458643011e-4
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

DP
type: SiteQuality
SIO_000300: 1.804239e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
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: 11578
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.27e-1

QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.924e1

FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.11e-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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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ClippingRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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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: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.075e0

DP
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SIO_000300: 1.765796e6

FS
type: SiteQuality
SIO_000300: 2.2725e1

VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8632
num of homozygotes: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
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Other
type: Population
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African
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allele count: 34
allele frequency: 3.268602191886176e-3
allele num: 10402
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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DP
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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QD
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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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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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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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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South Asian
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African
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

FS
type: SiteQuality
SIO_000300: 2.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.755504e6

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

QD
type: SiteQuality
SIO_000300: 6.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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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: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024640780793445e-5
allele num: 66394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.745336e6

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 2.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.046e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.116e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.739305e6

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 9.4e0

DP
type: SiteQuality
SIO_000300: 1.730577e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.3524e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.949e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3769
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variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

FS
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.971e0

DP
type: SiteQuality
SIO_000300: 1.716332e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 975
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1460
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.445e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

QD
type: SiteQuality
SIO_000300: 2.818e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.634e0

DP
type: SiteQuality
SIO_000300: 1.67791e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.114385538508278e-5
allele num: 65830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 1.331e0

DP
type: SiteQuality
SIO_000300: 1.669192e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.337e1

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: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.042e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.096e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.665677e6

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1