2-207023846-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207023846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207023844
    reference: chr 2
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000400976
  ensembl transcript: ENST00000457011
  gene symbol: NDUFS1
  hgvsc: ENST00000457011.1:c.-11+217_-11+218delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000395553
  ensembl transcript: ENST00000456284
  gene symbol: NDUFS1
  hgvsc: ENST00000456284.1:c.-5+217_-5+218delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000399912
  ensembl transcript: ENST00000449699
  gene symbol: NDUFS1
  hgvsc: ENST00000449699.1:c.-33_-32delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000409689
  ensembl transcript: ENST00000432169
  gene symbol: NDUFS1
  hgvsc: ENST00000432169.1:c.-61+217_-61+218delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000392709
  ensembl transcript: ENST00000455934
  gene symbol: NDUFS1
  hgvsc: ENST00000455934.2:c.10_11delAG
  hgvsp: ENSP00000392709.2:p.Arg4GlyfsTer25
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000389413
  ensembl transcript: ENST00000454195
  gene symbol: NDUFS1
  hgvsc: ENST00000454195.1:c.-45_-44delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000397760
  ensembl transcript: ENST00000423725
  gene symbol: NDUFS1
  hgvsc: ENST00000423725.1:c.-84+217_-84+218delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000233190
  ensembl transcript: ENST00000233190
  gene symbol: NDUFS1
  hgvsc: ENST00000233190.6:c.-5+217_-5+218delAG
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000409766
  ensembl transcript: ENST00000440274
  gene symbol: NDUFS1
  hgvsc: ENST00000440274.1:c.-5+217_-5+218delAG
  variant of: http://identifiers.org/hgnc/7707
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg4GlyfsTer25
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: CCT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

2-207023906-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207023906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207023906
    reference: chr 2
allele count: 1
allele frequency: 9.286775631500742e-5
allele num: 10768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000389413
  ensembl transcript: ENST00000454195
  gene symbol: NDUFS1
  hgvsc: ENST00000454195.1:c.-103A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000400976
  ensembl transcript: ENST00000457011
  gene symbol: NDUFS1
  hgvsc: ENST00000457011.1:c.-11+159A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000395553
  ensembl transcript: ENST00000456284
  gene symbol: NDUFS1
  hgvsc: ENST00000456284.1:c.-5+159A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000409689
  ensembl transcript: ENST00000432169
  gene symbol: NDUFS1
  hgvsc: ENST00000432169.1:c.-61+159A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000233190
  ensembl transcript: ENST00000233190
  gene symbol: NDUFS1
  hgvsc: ENST00000233190.6:c.-5+159A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000392709
  ensembl transcript: ENST00000455934
  gene symbol: NDUFS1
  hgvsc: ENST00000455934.2:c.-49A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000397760
  ensembl transcript: ENST00000423725
  gene symbol: NDUFS1
  hgvsc: ENST00000423725.1:c.-84+159A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000399912
  ensembl transcript: ENST00000449699
  gene symbol: NDUFS1
  hgvsc: ENST00000449699.1:c.-91A>T
  variant of: http://identifiers.org/hgnc/7707
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023228
  ensembl protein: ENSP00000409766
  ensembl transcript: ENST00000440274
  gene symbol: NDUFS1
  hgvsc: ENST00000440274.1:c.-5+159A>T
  variant of: http://identifiers.org/hgnc/7707
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-207024657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024657
    reference: chr 2
allele count: 1
allele frequency: 8.597417335832316e-6
allele num: 116314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-26C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-47C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-26C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.296C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-26C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-207024657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024657
    reference: chr 2
allele count: 1
allele frequency: 8.597417335832316e-6
allele num: 116314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-47C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.296C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-26C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-26C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-207024660-GCTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024656
    reference: chr 2
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-20_-21-17delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-20_-21-17delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-41_-38delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-20_71-17delCTCT
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.302_305delCTCT
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: GCTCT
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-207024663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024663
    reference: chr 2
allele count: 1
allele frequency: 8.580155815629612e-6
allele num: 116548
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-20C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-20C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-20C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-41C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.302C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

2-207024665-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024665
    reference: chr 2
allele count: 2
allele frequency: 1.715972269888119e-5
allele num: 116552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-18C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.304C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-18C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-18C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-207024666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024666
    reference: chr 2
allele count: 1
allele frequency: 8.575593859874796e-6
allele num: 116610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.305T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-17T>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-207024671-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024671
    reference: chr 2
allele count: 8
allele frequency: 6.860004459002899e-5
allele num: 116618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-12G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-12G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.310G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-12G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-207024680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024680
    reference: chr 2
allele count: 69
allele frequency: 5.906826236581231e-4
allele num: 116814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-3C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-3C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.319C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-3C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17207
  bin: 6.25e1
  variant carriers: 0
hgvs: c.-21-3C>T
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-207024682-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024682
    reference: chr 2
allele count: 4
allele frequency: 3.421845058855735e-5
allele num: 116896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21-1G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71-1G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.321G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21-1G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
hgvs: c.-21-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

2-207024683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024683
    reference: chr 2
allele count: 1
allele frequency: 8.555051758063135e-6
allele num: 116890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.322C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
hgvs: c.-21C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-207024692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024692
    reference: chr 2
allele count: 2
allele frequency: 1.704187187920721e-5
allele num: 117358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.331A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.80A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-207024693-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024693
    reference: chr 2
allele count: 1
allele frequency: 8.520645524104906e-6
allele num: 117362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.81C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.332C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-207024696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024696
    reference: chr 2
allele count: 1
allele frequency: 8.509624385179638e-6
allele num: 117514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.84C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.335C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-8C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-207024698-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024698
    reference: chr 2
allele count: 1
allele frequency: 8.497187430960352e-6
allele num: 117686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.86G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.337G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13507
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-207024702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024702
    reference: chr 2
allele count: 2
allele frequency: 1.696899764130933e-5
allele num: 117862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.341C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.90C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-207024719-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024719
    reference: chr 2
allele count: 1
allele frequency: 8.447087444249223e-6
allele num: 118384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.16C>G
  hgvsp: ENSP00000399917.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.16C>G
  hgvsp: ENSP00000393501.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.16C>G
  hgvsp: ENSP00000376055.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.16C>G
  hgvsp: ENSP00000387407.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.16C>G
  hgvsp: ENSP00000376056.2:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.16C>G
  hgvsp: ENSP00000397793.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.107C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.16C>G
  hgvsp: ENSP00000236957.5:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.358C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.16C>G
  hgvsp: ENSP00000407730.1:p.Leu6Val
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu6Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-207024726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024726
    reference: chr 2
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.23G>T
  hgvsp: ENSP00000376055.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.23G>T
  hgvsp: ENSP00000393501.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.23G>T
  hgvsp: ENSP00000407730.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.23G>T
  hgvsp: ENSP00000397793.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.23G>T
  hgvsp: ENSP00000376056.2:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.23G>T
  hgvsp: ENSP00000236957.5:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.365G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.23G>T
  hgvsp: ENSP00000387407.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.114G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.23G>T
  hgvsp: ENSP00000399917.1:p.Ser8Ile
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser8Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-207024727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024727
    reference: chr 2
allele count: 3
allele frequency: 2.530620508148598e-5
allele num: 118548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.24C>T
  hgvsp: ENST00000455150.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.24C>T
  hgvsp: ENST00000445505.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.24C>T
  hgvsp: ENST00000415904.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.24C>T
  hgvsp: ENST00000392222.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.366C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.24C>T
  hgvsp: ENST00000435123.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.24C>T
  hgvsp: ENST00000236957.5:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.24C>T
  hgvsp: ENST00000392221.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.24C>T
  hgvsp: ENST00000429769.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.115C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser8Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-207024729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024729
    reference: chr 2
allele count: 2
allele frequency: 1.687251130458257e-5
allele num: 118536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.26C>T
  hgvsp: ENSP00000387407.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.26C>T
  hgvsp: ENSP00000393501.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.117C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.26C>T
  hgvsp: ENSP00000397793.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.26C>T
  hgvsp: ENSP00000376056.2:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.26C>T
  hgvsp: ENSP00000376055.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.26C>T
  hgvsp: ENSP00000399917.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.26C>T
  hgvsp: ENSP00000236957.5:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.368C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.26C>T
  hgvsp: ENSP00000407730.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro9Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

2-207024731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024731
    reference: chr 2
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.28G>T
  hgvsp: ENSP00000399917.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.28G>T
  hgvsp: ENSP00000397793.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.28G>T
  hgvsp: ENSP00000407730.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.119G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.28G>T
  hgvsp: ENSP00000393501.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.28G>T
  hgvsp: ENSP00000236957.5:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.28G>T
  hgvsp: ENSP00000376056.2:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.28G>T
  hgvsp: ENSP00000376055.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.28G>T
  hgvsp: ENSP00000387407.1:p.Ala10Ser
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.370G>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala10Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-207024732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024732
    reference: chr 2
allele count: 1
allele frequency: 8.435259384226064e-6
allele num: 118550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.29C>G
  hgvsp: ENSP00000236957.5:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.29C>G
  hgvsp: ENSP00000376055.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.29C>G
  hgvsp: ENSP00000376056.2:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.371C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.29C>G
  hgvsp: ENSP00000399917.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.29C>G
  hgvsp: ENSP00000387407.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.29C>G
  hgvsp: ENSP00000393501.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.29C>G
  hgvsp: ENSP00000397793.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.120C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.29C>G
  hgvsp: ENSP00000407730.1:p.Ala10Gly
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13500
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala10Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-207024733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024733
    reference: chr 2
allele count: 6
allele frequency: 5.060728744939271e-5
allele num: 118560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.121C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.30C>T
  hgvsp: ENST00000429769.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.30C>T
  hgvsp: ENST00000392221.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.30C>T
  hgvsp: ENST00000236957.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.30C>T
  hgvsp: ENST00000392222.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.372C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.30C>T
  hgvsp: ENST00000415904.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.30C>T
  hgvsp: ENST00000435123.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.30C>T
  hgvsp: ENST00000455150.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.30C>T
  hgvsp: ENST00000445505.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala10Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-207024741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024741
    reference: chr 2
allele count: 1
allele frequency: 8.425025696328374e-6
allele num: 118694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.380A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.38A>G
  hgvsp: ENSP00000393501.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.38A>G
  hgvsp: ENSP00000376056.2:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.38A>G
  hgvsp: ENSP00000407730.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.38A>G
  hgvsp: ENSP00000387407.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.38A>G
  hgvsp: ENSP00000376055.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.38A>G
  hgvsp: ENSP00000236957.5:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.129A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.38A>G
  hgvsp: ENSP00000399917.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.38A>G
  hgvsp: ENSP00000397793.1:p.Gln13Arg
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln13Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-207024745-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024745
    reference: chr 2
allele count: 1
allele frequency: 8.421052631578947e-6
allele num: 118750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.42G>T
  hgvsp: ENST00000392222.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.42G>T
  hgvsp: ENST00000429769.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.42G>T
  hgvsp: ENST00000392221.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+3G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.42G>T
  hgvsp: ENST00000435123.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.42G>T
  hgvsp: ENST00000445505.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.384G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.42G>T
  hgvsp: ENST00000236957.5:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.42G>T
  hgvsp: ENST00000415904.1:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.133G>T
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.25e1
  variant carriers: 0
hgvs: c.39+3G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

2-207024746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024746
    reference: chr 2
allele count: 1
allele frequency: 8.420059950826851e-6
allele num: 118764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.43C>T
  hgvsp: ENSP00000376056.2:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+4C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.43C>T
  hgvsp: ENSP00000407730.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.43C>T
  hgvsp: ENSP00000393501.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.43C>T
  hgvsp: ENSP00000236957.5:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.43C>T
  hgvsp: ENSP00000397793.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.43C>T
  hgvsp: ENSP00000376055.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.43C>T
  hgvsp: ENSP00000399917.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.385C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.134C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu15Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-207024748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024748
    reference: chr 2
allele count: 2
allele frequency: 1.684182161142549e-5
allele num: 118752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.45C>T
  hgvsp: ENST00000392221.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.45C>T
  hgvsp: ENST00000445505.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.45C>T
  hgvsp: ENST00000392222.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.136C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.45C>T
  hgvsp: ENST00000429769.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+6C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.45C>T
  hgvsp: ENST00000415904.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.45C>T
  hgvsp: ENST00000435123.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.387C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.45C>T
  hgvsp: ENST00000236957.5:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: c.39+6C>T
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-207024757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024757
    reference: chr 2
allele count: 2
allele frequency: 1.682170673036486e-5
allele num: 118894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.54C>T
  hgvsp: ENST00000445505.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.54C>T
  hgvsp: ENST00000435123.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.54C>T
  hgvsp: ENST00000236957.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+15C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.145C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.54C>T
  hgvsp: ENST00000415904.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.54C>T
  hgvsp: ENST00000392221.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.54C>T
  hgvsp: ENST00000392222.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.54C>T
  hgvsp: ENST00000429769.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.396C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr18Tyr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-207024761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024761
    reference: chr 2
allele count: 3
allele frequency: 2.523638076651301e-5
allele num: 118876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.58G>A
  hgvsp: ENSP00000393501.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.58G>A
  hgvsp: ENSP00000376056.2:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.149G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+19G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.58G>A
  hgvsp: ENSP00000397793.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.58G>A
  hgvsp: ENSP00000399917.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.58G>A
  hgvsp: ENSP00000407730.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.58G>A
  hgvsp: ENSP00000376055.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.58G>A
  hgvsp: ENSP00000236957.5:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.400G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala20Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-207024762-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024762
    reference: chr 2
allele count: 5
allele frequency: 4.205143731812753e-5
allele num: 118902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.59C>A
  hgvsp: ENSP00000393501.1:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.59C>A
  hgvsp: ENSP00000236957.5:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.401C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+20C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.59C>A
  hgvsp: ENSP00000399917.1:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.59C>A
  hgvsp: ENSP00000376055.1:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.59C>A
  hgvsp: ENSP00000376056.2:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.59C>A
  hgvsp: ENSP00000397793.1:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.59C>A
  hgvsp: ENSP00000407730.1:p.Ala20Glu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.150C>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala20Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-207024763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024763
    reference: chr 2
allele count: 27
allele frequency: 2.270586652314316e-4
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.60G>A
  hgvsp: ENST00000445505.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.60G>A
  hgvsp: ENST00000392222.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.60G>A
  hgvsp: ENST00000435123.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.60G>A
  hgvsp: ENST00000236957.5:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.60G>A
  hgvsp: ENST00000415904.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.402G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.151G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.60G>A
  hgvsp: ENST00000392221.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.60G>A
  hgvsp: ENST00000429769.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala20Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-207024764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024764
    reference: chr 2
allele count: 4
allele frequency: 3.363832077502691e-5
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.61G>A
  hgvsp: ENSP00000236957.5:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.61G>A
  hgvsp: ENSP00000407730.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.61G>A
  hgvsp: ENSP00000376056.2:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.403G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.61G>A
  hgvsp: ENSP00000376055.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.152G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.61G>A
  hgvsp: ENSP00000397793.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.61G>A
  hgvsp: ENSP00000393501.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+22G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.61G>A
  hgvsp: ENSP00000399917.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19687
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp21Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-207024766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024766
    reference: chr 2
allele count: 2
allele frequency: 1.681944327642755e-5
allele num: 118910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.405C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.63C>T
  hgvsp: ENST00000435123.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.63C>T
  hgvsp: ENST00000392221.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.63C>T
  hgvsp: ENST00000445505.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.63C>T
  hgvsp: ENST00000236957.5:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.63C>T
  hgvsp: ENST00000429769.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.63C>T
  hgvsp: ENST00000392222.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.63C>T
  hgvsp: ENST00000415904.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.154C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+24C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13463
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp21Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-207024774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024774
    reference: chr 2
allele count: 2
allele frequency: 1.683501683501683e-5
allele num: 118800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.71A>G
  hgvsp: ENSP00000376055.1:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.71A>G
  hgvsp: ENSP00000407730.1:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.71A>G
  hgvsp: ENSP00000399917.1:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.413A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.71A>G
  hgvsp: ENSP00000376056.2:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+32A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.71A>G
  hgvsp: ENSP00000236957.5:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.71A>G
  hgvsp: ENSP00000397793.1:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.162A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.71A>G
  hgvsp: ENSP00000393501.1:p.Tyr24Cys
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr24Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-207024776-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024776
    reference: chr 2
allele count: 1
allele frequency: 8.418500496691529e-6
allele num: 118786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.164A>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.415A>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.73A>C
  hgvsp: ENSP00000393501.1:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+34A>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.73A>C
  hgvsp: ENSP00000236957.5:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.73A>C
  hgvsp: ENSP00000407730.1:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.73A>C
  hgvsp: ENSP00000397793.1:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.73A>C
  hgvsp: ENSP00000376056.2:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.73A>C
  hgvsp: ENSP00000376055.1:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.73A>C
  hgvsp: ENSP00000399917.1:p.Ile25Leu
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile25Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-207024782-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024782
    reference: chr 2
allele count: 1
allele frequency: 8.426445556735258e-6
allele num: 118674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.79G>T
  hgvsp: ENSP00000376055.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.79G>T
  hgvsp: ENSP00000399917.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.79G>T
  hgvsp: ENSP00000407730.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.170G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+40G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.79G>T
  hgvsp: ENSP00000236957.5:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.79G>T
  hgvsp: ENSP00000376056.2:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.79G>T
  hgvsp: ENSP00000393501.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.79G>T
  hgvsp: ENSP00000397793.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.421G>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-207024784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024784
    reference: chr 2
allele count: 1
allele frequency: 8.434405627435435e-6
allele num: 118562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+42G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+1G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+1G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 8.25e1
  variant carriers: 0
hgvs: c.80+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-207024790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024790
    reference: chr 2
allele count: 1
allele frequency: 8.443806467955754e-6
allele num: 118430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+48G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+7G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.80+7G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

2-207024794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024794
    reference: chr 2
allele count: 2
allele frequency: 1.69445574081605e-5
allele num: 118032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+52G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+11G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-207024794-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024794
    reference: chr 2
allele count: 1
allele frequency: 8.472278704080249e-6
allele num: 118032
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+52G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+11G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-207024801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024801
    reference: chr 2
allele count: 2
allele frequency: 1.69776404475306e-5
allele num: 117802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+18G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+59G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+18G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-207024804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024804
    reference: chr 2
allele count: 1
allele frequency: 8.522388314101144e-6
allele num: 117338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+62G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+21G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+21G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-207024811-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024812
    reference: chr 2
allele count: 8
allele frequency: 6.840296184824804e-5
allele num: 116954
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+73dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+32dupG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+32dupG
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-207024811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024811
    reference: chr 2
allele count: 5
allele frequency: 4.275185115515502e-5
allele num: 116954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+28C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+69C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-207024815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024815
    reference: chr 2
allele count: 6
allele frequency: 5.138658125074939e-5
allele num: 116762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+73G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+32G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+32G>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-207024817-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024817
    reference: chr 2
allele count: 1
allele frequency: 8.590327291469806e-6
allele num: 116410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+75G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+34G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+34G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-207024821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024821
    reference: chr 2
allele count: 1
allele frequency: 8.644237751115106e-6
allele num: 115684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+79T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+38T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+38T>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-207024821-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024821
    reference: chr 2
allele count: 2
allele frequency: 1.728847550223021e-5
allele num: 115684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+79T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+38T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+38T>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-207024825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024825
    reference: chr 2
allele count: 1
allele frequency: 8.745080891998251e-6
allele num: 114350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+83C>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+42C>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-207024825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024825
    reference: chr 2
allele count: 1
allele frequency: 8.745080891998251e-6
allele num: 114350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+42C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+83C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9306
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

2-207024826-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024826
    reference: chr 2
allele count: 2
allele frequency: 1.748679746791173e-5
allele num: 114372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+84G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+43G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-207024828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024828
    reference: chr 2
allele count: 1
allele frequency: 8.817253601848096e-6
allele num: 113414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+86C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+45C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-207024829-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024828
    reference: chr 2
allele count: 1
allele frequency: 8.823010411152285e-6
allele num: 113340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+91delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+50delG
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: CG
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-207024830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024830
    reference: chr 2
allele count: 1
allele frequency: 8.78827292860407e-6
allele num: 113788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+88G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+47G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+47G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-207024831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024831
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024831
    reference: chr 2
allele count: 1
allele frequency: 8.772545441785388e-6
allele num: 113992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+89G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+48G>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-207024835-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024835
    reference: chr 2
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.171+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.39+93C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.422+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.80+52C>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-207024835-CGGGGCCACG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207024835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207024826
    reference: chr 2
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: CGGGGCCACG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-207025233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025233
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025233
    reference: chr 2
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-48G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-48G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-79G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-207025236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025236
    reference: chr 2
allele count: 2
allele frequency: 1.685090320841197e-5
allele num: 118688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-45G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-45G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-76G>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-207025237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025237
    reference: chr 2
allele count: 1
allele frequency: 8.423748231012871e-6
allele num: 118712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-44C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-44C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-75C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-75C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-207025238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025238
    reference: chr 2
allele count: 1
allele frequency: 8.417083312290625e-6
allele num: 118806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-43A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-74A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-43A>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-207025240-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025240
    reference: chr 2
allele count: 1
allele frequency: 8.416233230655287e-6
allele num: 118818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-72A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-41A>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-41A>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-207025241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025241
    reference: chr 2
allele count: 1
allele frequency: 8.421619982819896e-6
allele num: 118742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-71C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-40C>T
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-40C>T
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-207025251-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025251
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025251
    reference: chr 2
allele count: 132
allele frequency: 1.108479871013251e-3
allele num: 119082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-30T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-30T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-61T>G
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-207025270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025270
    reference: chr 2
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-11G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-42G>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-42G>C
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-207025272-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025272
    reference: chr 2
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-9T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-9T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-40T>A
  variant of: http://identifiers.org/hgnc/3208
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-207025278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025278
    reference: chr 2
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.81-3A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-34A>G
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.40-3A>G
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.40-3A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-207025295-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 207025295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 207025295
    reference: chr 2
allele count: 3
allele frequency: 2.475410918212423e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000397793
  ensembl transcript: ENST00000429769
  gene symbol: EEF1B2
  hgvsc: ENST00000429769.1:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000399917
  ensembl transcript: ENST00000435123
  gene symbol: EEF1B2
  hgvsc: ENST00000435123.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376056
  ensembl transcript: ENST00000392222
  gene symbol: EEF1B2
  hgvsc: ENST00000392222.2:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000236957
  ensembl transcript: ENST00000236957
  gene symbol: EEF1B2
  hgvsc: ENST00000236957.5:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000376055
  ensembl transcript: ENST00000392221
  gene symbol: EEF1B2
  hgvsc: ENST00000392221.1:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000460760
  gene symbol: EEF1B2
  hgvsc: ENST00000460760.1:n.423-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000393501
  ensembl transcript: ENST00000415904
  gene symbol: EEF1B2
  hgvsc: ENST00000415904.1:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000387407
  ensembl transcript: ENST00000455150
  gene symbol: EEF1B2
  hgvsc: ENST00000455150.1:c.54T>C
  hgvsp: ENST00000455150.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl transcript: ENST00000479587
  gene symbol: EEF1B2
  hgvsc: ENST00000479587.1:n.172-17T>C
  variant of: http://identifiers.org/hgnc/3208
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114942
  ensembl protein: ENSP00000407730
  ensembl transcript: ENST00000445505
  gene symbol: EEF1B2
  hgvsc: ENST00000445505.1:c.81-17T>C
  variant of: http://identifiers.org/hgnc/3208
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val18Val
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 196
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

QD
type: SiteQuality
SIO_000300: 1.88e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.15863e5

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

DP
type: SiteQuality
SIO_000300: 2.17563e5

MQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 8.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

GenotypeQuality
all individuals: 925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63960
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: 1.4086e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.557e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
SIO_000300: 2.108322e6

GenotypeQuality
all individuals: 411
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8000
bin: 6.75e1
variant carriers: 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: 856
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.097694840834248e-4
allele num: 9110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63960
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.557e1

FS
type: SiteQuality
SIO_000300: 1.4086e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 2.108322e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15365
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
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: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561963075192902e-5
allele num: 64022
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.726e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

DP
type: SiteQuality
SIO_000300: 2.109905e6

FS
type: SiteQuality
SIO_000300: 2.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 4.83e0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561231499406732e-5
allele num: 64052
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.727e1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 2.111751e6

VQSLOD
type: SiteQuality
SIO_000300: -3.039e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.123243175713661e-5
allele num: 64036
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 2.11296e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 4006
bin: 8.25e1
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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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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560792882784454e-5
allele num: 64070
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.416e0

VQSLOD
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 2.11366e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 814
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13564
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 9136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.092896174863388e-4
allele num: 64050
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.471e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.117784e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 1879
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
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variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 8128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
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variant carriers: 1

GenotypeQuality
all individuals: 100
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variant carriers: 0

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

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 4847
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variant carriers: 0

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13566
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 4006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 64
allele frequency: 6.985374372407771e-3
allele num: 9162
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119346185039615e-5
allele num: 64116
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: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 2.129786e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.356e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 3354
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variant carriers: 0

GenotypeQuality
all individuals: 4012
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GenotypeQuality
all individuals: 1944
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GenotypeQuality
all individuals: 4854
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GenotypeQuality
all individuals: 8158
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1902
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variant carriers: 0

GenotypeQuality
all individuals: 13512
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.676539360872954e-5
allele num: 64150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.127745e6

QD
type: SiteQuality
SIO_000300: 1.195e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -5.679e-1

FS
type: SiteQuality
SIO_000300: 1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e0

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 4010
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GenotypeQuality
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GenotypeQuality
all individuals: 1864
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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: 115
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 17338
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variant carriers: 0

GenotypeQuality
all individuals: 4854
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variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
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: 1.558943659776136e-5
allele num: 64146
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.283e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 2.128443e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
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GenotypeQuality
all individuals: 3368
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 18074
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GenotypeQuality
all individuals: 8225
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GenotypeQuality
all individuals: 4016
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GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 3031
bin: 9.25e1
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 13509
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 4862
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variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 2.25e1
variant carriers: 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: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.212723658051689e-5
allele num: 16096
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.137426e6

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 9254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55458135124211e-5
allele num: 64326
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.138559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.522e0

VQSLOD
type: SiteQuality
SIO_000300: -3.062e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 9272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 2.366e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 2.141751e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 70
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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: 0
allele frequency: 0.0e0
allele num: 64464
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: 9306
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: -8.389e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.823e0

DP
type: SiteQuality
SIO_000300: 2.14399e6

QD
type: SiteQuality
SIO_000300: 1.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.559e0

GenotypeQuality
all individuals: 1757
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
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: 882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.098181367537256e-5
allele num: 64554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e0

DP
type: SiteQuality
SIO_000300: 2.147583e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

GenotypeQuality
all individuals: 43
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543019380323417e-5
allele num: 64808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 2.15547e6

VQSLOD
type: SiteQuality
SIO_000300: -5.054e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541924939093965e-5
allele num: 64854
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 8.58e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.919e0

DP
type: SiteQuality
SIO_000300: 2.156902e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1944
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64888
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 2.157226e6

QD
type: SiteQuality
SIO_000300: 1.112e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3030
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GenotypeQuality
all individuals: 4879
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.054185114906177e-4
allele num: 9486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.77e-1

MQ
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SIO_000300: 5.899e1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ClippingRankSum
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SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 1.573e0

DP
type: SiteQuality
SIO_000300: 2.157124e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.168e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64884
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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FS
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SIO_000300: 2.629e0

ReadPosRankSum
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SIO_000300: 2.13e-1

BaseQRankSum
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SIO_000300: -2.166e0

QD
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SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541639687972127e-5
allele num: 64866
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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SIO_000300: 4.524e0

BaseQRankSum
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SIO_000300: 1.11e0

MQRankSum
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SIO_000300: 1.35e0

ClippingRankSum
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SIO_000300: -1.508e0

DP
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SIO_000300: 2.157474e6

QD
type: SiteQuality
SIO_000300: 1.186e1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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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: 8634
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.323763403666552e-4
allele num: 11564
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.151e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 2.157591e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 892
num of homozygotes: 0

MQRankSum
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SIO_000300: 9.88e-1

ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 1.042318115488847e-4
allele num: 9594
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.042100875364735e-4
allele num: 9596
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European (Non-Finnish)
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allele count: 0
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allele num: 64966
num of homozygotes: 0

South Asian
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 2.082899395959175e-4
allele num: 9602
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.076260497738949e-5
allele num: 65014
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQ
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SIO_000300: 5.881e1

ReadPosRankSum
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SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.441e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.614958619204381e-5
allele num: 65006
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
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SIO_000300: -2.001e0

InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.160159e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075692799803156e-5
allele num: 65026
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

FS
type: SiteQuality
SIO_000300: 2.964e0

InbreedingCoeff
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SIO_000300: 3.2e-3

DP
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BaseQRankSum
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SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

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

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3030
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
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: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.075787401574803e-4
allele num: 65024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

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

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 2.161329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65030
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.425418384671356e-4
allele num: 16492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.775e0

BaseQRankSum
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SIO_000300: -2.633e0

QD
type: SiteQuality
SIO_000300: 1.212e1

DP
type: SiteQuality
SIO_000300: 2.159402e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-5
allele num: 65020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.158396e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.07919694543663e-5
allele num: 64952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.157025e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.156547e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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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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bin: 3.75e1
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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
all individuals: 4872
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541592156379108e-5
allele num: 64868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.23e0

VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64794
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9662
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
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SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 8.206e0

DP
type: SiteQuality
SIO_000300: 2.151587e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4006
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
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: 9638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545212930341801e-5
allele num: 64716
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 4.941e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 2.147092e6

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

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551301541993733e-5
allele num: 64462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0751e1

VQSLOD
type: SiteQuality
SIO_000300: -6.515e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.133643e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64462
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.046243984097091e-4
allele num: 9558
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: 1.0751e1

DP
type: SiteQuality
SIO_000300: 2.133643e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.110226424483703e-5
allele num: 64304
num of homozygotes: 0

South 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

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

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

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 0
allele frequency: 0.0e0
allele num: 64022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1004e1

InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.254115065057219e-4
allele num: 63790
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 1.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 2.083637e6

GenotypeQuality
all individuals: 3169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15896
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.464268112370626e-4
allele num: 16232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567643831321524e-5
allele num: 63790
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.083637e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
SIO_000300: 1.179e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

African
type: Population
allele count: 1
allele frequency: 1.075731497418244e-4
allele num: 9296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.285947763774083e-5
allele num: 63634
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1622e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 2.064778e6

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

QD
type: SiteQuality
SIO_000300: 1.209e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

GenotypeQuality
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bin: 4.25e1
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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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
all individuals: 4583
bin: 7.75e1
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GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.555e1

MQ
type: SiteQuality
SIO_000300: 6.09e1

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 2.05236e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13370
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62946
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 1.2895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 2.028019e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 121
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.177326597400947e-5
allele num: 62946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.2895e1

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 2.028019e6

QD
type: SiteQuality
SIO_000300: 1.422e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609165808444902e-5
allele num: 62144
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.986151e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.232859636000998e-5
allele num: 16044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62144
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.245174947080065e-4
allele num: 16062
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

FS
type: SiteQuality
SIO_000300: 2.057e0

DP
type: SiteQuality
SIO_000300: 1.984583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
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SIO_000300: 6.042e1

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: -1.165e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623903864891198e-5
allele num: 61580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
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SIO_000300: 6.047e1

VQSLOD
type: SiteQuality
SIO_000300: -2.058e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 1.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.065e0

DP
type: SiteQuality
SIO_000300: 1.962793e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.283775292195552e-5
allele num: 15914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.960815e6

MQ
type: SiteQuality
SIO_000300: 6.035e1

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3776
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.266449429753102e-5
allele num: 15958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.95776e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.246e0

QD
type: SiteQuality
SIO_000300: 2.691e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.264094211976948e-5
allele num: 15964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61990
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -1.528e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.95653e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.973e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621691748832382e-5
allele num: 61664
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 1.950011e6

ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ClippingRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61664
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.310740880979428e-5
allele num: 15846
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11522
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054087896649666e-5
allele num: 65486
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

DP
type: SiteQuality
SIO_000300: 2.034636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.093e0

QD
type: SiteQuality
SIO_000300: 1.309e1

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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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ClippingRankSum
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SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

MQRankSum
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SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

DP
type: SiteQuality
SIO_000300: 2.037605e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-5
allele num: 65520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
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SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.040477e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
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SIO_000300: 1.243e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 2.044817e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526344709689236e-5
allele num: 65516
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.048073e6

QD
type: SiteQuality
SIO_000300: 1.066e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 127
allele frequency: 1.28698824483178e-2
allele num: 9868
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.070067e6

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.108688e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.56e-1

ClippingRankSum
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VQSLOD
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SIO_000300: -3.354e-1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510163399679845e-5
allele num: 66218
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

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

East Asian
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allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.109784e6

MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -1.037e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
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

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: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8974e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.697e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

DP
type: SiteQuality
SIO_000300: 2.113963e6

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23347
bin: 9.75e1
variant carriers: 3

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

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