3-184041060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041060
    reference: chr 3
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178565G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1500+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2088+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2088+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1968+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2109+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1596+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1596+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2109+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1596+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2109+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1911+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2088+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1527+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2088+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1827+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1827+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1595+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2109+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1500+31G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1968+31G>A
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

3-184041061-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041061
    reference: chr 3
allele count: 2
allele frequency: 1.659200265472042e-5
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2088+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1596+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1500+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1595+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2109+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2109+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178566C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1911+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2109+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1500+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1827+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2088+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1968+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2109+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1596+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2088+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1596+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1827+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1527+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2088+32C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1968+32C>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-184041064-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041064
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041064
    reference: chr 3
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2109+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2088+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1827+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1596+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1968+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1911+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2088+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2109+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1827+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2088+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1527+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1500+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1595+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1500+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1596+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2088+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1968+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178569G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2109+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1596+35G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2109+35G>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-184041066-A-AGTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041070
    reference: chr 3
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: AGTGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1596+39_1596+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2109+39_2109+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1968+39_1968+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2109+39_2109+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1500+39_1500+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2088+39_2088+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1827+39_1827+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2088+39_2088+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1968+39_1968+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2088+39_2088+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1827+39_1827+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1500+39_1500+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2088+39_2088+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2109+39_2109+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2109+39_2109+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1527+39_*1527+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1596+39_1596+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1595+39_*1595+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1911+39_1911+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1596+39_1596+42dupTGGG
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-184041074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041074
    reference: chr 3
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2109+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1500+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2088+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2109+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1596+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2109+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2088+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1827+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178579T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1500+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1968+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1827+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1911+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1527+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2088+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1595+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2109+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1968+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1596+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1596+45T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2088+45T>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

3-184041143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041143
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041143
    reference: chr 3
allele count: 6
allele frequency: 4.97619719010732e-5
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178648T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-53T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-50T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-50T>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-184041144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041144
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041144
    reference: chr 3
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178649A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-52A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-49A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-52A>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-184041145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041145
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041145
    reference: chr 3
allele count: 149
allele frequency: 1.235673649466753e-3
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178650T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-51T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-48T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-51T>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-184041146-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041146
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041146
    reference: chr 3
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178651T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-47T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-50T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-50T>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-184041150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041150
    reference: chr 3
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178655C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-43C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-46C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-46C>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-184041160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041160
    reference: chr 3
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-33C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178665C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-36C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-36C>A
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-184041161-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041162
    reference: chr 3
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178667dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-31dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-34dupA
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-34dupA
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-184041161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041161
    reference: chr 3
allele count: 4
allele frequency: 3.316914606033468e-5
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178666C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-35C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-32C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-35C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-184041167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041167
    reference: chr 3
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178672C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-26C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-29C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-29C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-184041168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041168
    reference: chr 3
allele count: 721
allele frequency: 5.977053420433067e-3
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178673C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-25C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-28C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-28C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 7
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-184041171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041171
    reference: chr 3
allele count: 16
allele frequency: 1.326193989025745e-4
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178676C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-25C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-22C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-25C>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-184041171-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041169
    reference: chr 3
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-21_2089-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-21_2110-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-24_2110-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-24_1597-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-24_*1528-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-24_1969-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-21_1828-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-24_2089-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-21_1969-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-24_*1596-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-21_1501-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-24_2110-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-21_1597-20delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-24_1912-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-24_2089-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-24_2110-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-24_1501-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-24_1597-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178677_2106+178678delTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-24_1828-23delTT
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-21_2089-20delTT
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: CTT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-184041179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041179
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041179
    reference: chr 3
allele count: 4
allele frequency: 3.314166404295159e-5
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178684C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-14C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

3-184041182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041182
    reference: chr 3
allele count: 24
allele frequency: 1.988137446568806e-4
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178687C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-11C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-11C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-184041188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041188
    reference: chr 3
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178693C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1528-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1501-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828-5C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-8C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-8C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2110-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

3-184041190-TAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041187
    reference: chr 3
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1969_1971delCAG
  hgvsp: ENSP00000395974.1:p.Gln657del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2089-3_2089-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1828_1830delCAG
  hgvsp: ENSP00000407682.1:p.Gln610del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1597-3_1597-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2110_2112delCAG
  hgvsp: ENSP00000413159.1:p.Gln704del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1597-3_1597-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1501_1503delCAG
  hgvsp: ENSP00000411826.2:p.Gln501del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2089-3_2089-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2110-3_2110-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1969-3_1969-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1912-3_1912-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2089_2091delCAG
  hgvsp: ENSP00000391412.1:p.Gln697del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1596-3_*1596-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2089_2091delCAG
  hgvsp: ENSP00000343450.4:p.Gln697del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1828-3_1828-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1597_1599delCAG
  hgvsp: ENSP00000399858.1:p.Gln533del
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2110-3_2110-1delCAG
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2110-3_2110-1delCAG
  variant of: http://identifiers.org/hgnc/3296
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2089_2091delCAG
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TAGC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-184041200-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041200
    reference: chr 3
allele count: 5
allele frequency: 4.139141376512856e-5
allele num: 120798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1505G>C
  hgvsp: ENSP00000404754.2:p.Gly502Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1532G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2093G>C
  hgvsp: ENSP00000316879.4:p.Gly698Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1508G>C
  hgvsp: ENSP00000411826.2:p.Gly503Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2114G>C
  hgvsp: ENSP00000416255.1:p.Gly705Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1601G>C
  hgvsp: ENSP00000398145.1:p.Gly534Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1976G>C
  hgvsp: ENSP00000395974.1:p.Gly659Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2096G>C
  hgvsp: ENSP00000391412.1:p.Gly699Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2114G>C
  hgvsp: ENSP00000338020.4:p.Gly705Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1916G>C
  hgvsp: ENSP00000403269.1:p.Gly639Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2117G>C
  hgvsp: ENSP00000413159.1:p.Gly706Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1601G>C
  hgvsp: ENSP00000317600.8:p.Gly534Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2093G>C
  hgvsp: ENSP00000323737.6:p.Gly698Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2114G>C
  hgvsp: ENSP00000371767.3:p.Gly705Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1832G>C
  hgvsp: ENSP00000376320.2:p.Gly611Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1973G>C
  hgvsp: ENSP00000391935.1:p.Gly658Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2096G>C
  hgvsp: ENSP00000343450.4:p.Gly699Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1600G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178705G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly705Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-184041208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041208
    reference: chr 3
allele count: 2
allele frequency: 1.655355073663301e-5
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1609C>A
  hgvsp: ENSP00000398145.1:p.Pro537Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1924C>A
  hgvsp: ENSP00000403269.1:p.Pro642Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2122C>A
  hgvsp: ENSP00000338020.4:p.Pro708Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1840C>A
  hgvsp: ENSP00000376320.2:p.Pro614Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1516C>A
  hgvsp: ENSP00000411826.2:p.Pro506Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2101C>A
  hgvsp: ENSP00000316879.4:p.Pro701Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1843C>A
  hgvsp: ENSP00000407682.1:p.Pro615Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1513C>A
  hgvsp: ENSP00000404754.2:p.Pro505Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178713C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2122C>A
  hgvsp: ENSP00000416255.1:p.Pro708Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2104C>A
  hgvsp: ENSP00000343450.4:p.Pro702Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2101C>A
  hgvsp: ENSP00000323737.6:p.Pro701Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2125C>A
  hgvsp: ENSP00000413159.1:p.Pro709Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1981C>A
  hgvsp: ENSP00000391935.1:p.Pro661Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1612C>A
  hgvsp: ENSP00000399858.1:p.Pro538Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2104C>A
  hgvsp: ENSP00000391412.1:p.Pro702Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1608C>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1984C>A
  hgvsp: ENSP00000395974.1:p.Pro662Thr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2122C>A
  hgvsp: ENSP00000371767.3:p.Pro708Thr
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro708Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-184041211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041211
    reference: chr 3
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1516C>T
  hgvsp: ENSP00000404754.2:p.Arg506Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1984C>T
  hgvsp: ENSP00000391935.1:p.Arg662Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1543C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2104C>T
  hgvsp: ENSP00000316879.4:p.Arg702Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2125C>T
  hgvsp: ENSP00000338020.4:p.Arg709Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2128C>T
  hgvsp: ENSP00000413159.1:p.Arg710Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1927C>T
  hgvsp: ENSP00000403269.1:p.Arg643Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2104C>T
  hgvsp: ENSP00000323737.6:p.Arg702Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2107C>T
  hgvsp: ENSP00000391412.1:p.Arg703Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1611C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2125C>T
  hgvsp: ENSP00000371767.3:p.Arg709Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2125C>T
  hgvsp: ENSP00000416255.1:p.Arg709Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178716C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1615C>T
  hgvsp: ENSP00000399858.1:p.Arg539Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1843C>T
  hgvsp: ENSP00000376320.2:p.Arg615Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1846C>T
  hgvsp: ENSP00000407682.1:p.Arg616Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1519C>T
  hgvsp: ENSP00000411826.2:p.Arg507Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1612C>T
  hgvsp: ENSP00000317600.8:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1612C>T
  hgvsp: ENSP00000398145.1:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg709Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-184041215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041215
    reference: chr 3
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2129G>A
  hgvsp: ENSP00000371767.3:p.Arg710His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2129G>A
  hgvsp: ENSP00000338020.4:p.Arg710His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1988G>A
  hgvsp: ENSP00000391935.1:p.Arg663His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2111G>A
  hgvsp: ENSP00000391412.1:p.Arg704His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1850G>A
  hgvsp: ENSP00000407682.1:p.Arg617His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1616G>A
  hgvsp: ENSP00000317600.8:p.Arg539His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2129G>A
  hgvsp: ENSP00000416255.1:p.Arg710His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2111G>A
  hgvsp: ENSP00000343450.4:p.Arg704His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1619G>A
  hgvsp: ENSP00000399858.1:p.Arg540His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2108G>A
  hgvsp: ENSP00000316879.4:p.Arg703His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2108G>A
  hgvsp: ENSP00000323737.6:p.Arg703His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178720G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2132G>A
  hgvsp: ENSP00000413159.1:p.Arg711His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1523G>A
  hgvsp: ENSP00000411826.2:p.Arg508His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1520G>A
  hgvsp: ENSP00000404754.2:p.Arg507His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1847G>A
  hgvsp: ENSP00000376320.2:p.Arg616His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1615G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1991G>A
  hgvsp: ENSP00000395974.1:p.Arg664His
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1931G>A
  hgvsp: ENSP00000403269.1:p.Arg644His
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg710His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-184041217-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041217
    reference: chr 3
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1618T>G
  hgvsp: ENSP00000398145.1:p.Ser540Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2113T>G
  hgvsp: ENSP00000391412.1:p.Ser705Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1618T>G
  hgvsp: ENSP00000317600.8:p.Ser540Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2110T>G
  hgvsp: ENSP00000316879.4:p.Ser704Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1993T>G
  hgvsp: ENSP00000395974.1:p.Ser665Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1522T>G
  hgvsp: ENSP00000404754.2:p.Ser508Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2131T>G
  hgvsp: ENSP00000338020.4:p.Ser711Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1849T>G
  hgvsp: ENSP00000376320.2:p.Ser617Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1933T>G
  hgvsp: ENSP00000403269.1:p.Ser645Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2134T>G
  hgvsp: ENSP00000413159.1:p.Ser712Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2131T>G
  hgvsp: ENSP00000416255.1:p.Ser711Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1990T>G
  hgvsp: ENSP00000391935.1:p.Ser664Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1525T>G
  hgvsp: ENSP00000411826.2:p.Ser509Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1549T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2110T>G
  hgvsp: ENSP00000323737.6:p.Ser704Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178722T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1617T>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2113T>G
  hgvsp: ENSP00000343450.4:p.Ser705Ala
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1621T>G
  hgvsp: ENSP00000399858.1:p.Ser541Ala
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser711Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-184041218-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041218
    reference: chr 3
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1619C>G
  hgvsp: ENSP00000398145.1:p.Ser540Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2132C>G
  hgvsp: ENSP00000338020.4:p.Ser711Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2132C>G
  hgvsp: ENSP00000416255.1:p.Ser711Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2114C>G
  hgvsp: ENSP00000391412.1:p.Ser705Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1523C>G
  hgvsp: ENSP00000404754.2:p.Ser508Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1618C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1934C>G
  hgvsp: ENSP00000403269.1:p.Ser645Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2135C>G
  hgvsp: ENSP00000413159.1:p.Ser712Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2111C>G
  hgvsp: ENSP00000316879.4:p.Ser704Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1850C>G
  hgvsp: ENSP00000376320.2:p.Ser617Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2114C>G
  hgvsp: ENSP00000343450.4:p.Ser705Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2111C>G
  hgvsp: ENSP00000323737.6:p.Ser704Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2132C>G
  hgvsp: ENSP00000371767.3:p.Ser711Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.1994C>G
  hgvsp: ENSP00000395974.1:p.Ser665Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1550C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1622C>G
  hgvsp: ENSP00000399858.1:p.Ser541Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.1991C>G
  hgvsp: ENSP00000391935.1:p.Ser664Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1526C>G
  hgvsp: ENSP00000411826.2:p.Ser509Cys
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1853C>G
  hgvsp: ENSP00000407682.1:p.Ser618Cys
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser711Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-184041250-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041250
    reference: chr 3
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2164A>G
  hgvsp: ENSP00000416255.1:p.Ile722Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2146A>G
  hgvsp: ENSP00000343450.4:p.Ile716Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2143A>G
  hgvsp: ENSP00000316879.4:p.Ile715Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1654A>G
  hgvsp: ENSP00000399858.1:p.Ile552Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1582A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1555A>G
  hgvsp: ENSP00000404754.2:p.Ile519Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2143A>G
  hgvsp: ENSP00000323737.6:p.Ile715Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2167A>G
  hgvsp: ENSP00000413159.1:p.Ile723Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178755A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2026A>G
  hgvsp: ENSP00000395974.1:p.Ile676Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1882A>G
  hgvsp: ENSP00000376320.2:p.Ile628Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2146A>G
  hgvsp: ENSP00000391412.1:p.Ile716Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1966A>G
  hgvsp: ENSP00000403269.1:p.Ile656Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1651A>G
  hgvsp: ENSP00000398145.1:p.Ile551Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2164A>G
  hgvsp: ENSP00000371767.3:p.Ile722Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2164A>G
  hgvsp: ENSP00000338020.4:p.Ile722Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1650A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1558A>G
  hgvsp: ENSP00000411826.2:p.Ile520Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2023A>G
  hgvsp: ENSP00000391935.1:p.Ile675Val
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile722Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

3-184041255-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041255
    reference: chr 3
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1587T>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2031T>A
  hgvsp: ENST00000411531.1:c.2031T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2028T>A
  hgvsp: ENST00000414031.1:c.2028T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1890T>A
  hgvsp: ENST00000427845.1:c.1890T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1656T>A
  hgvsp: ENST00000444861.1:c.1656T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1655T>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2151T>A
  hgvsp: ENST00000450424.1:c.2151T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1887T>A
  hgvsp: ENST00000392537.2:c.1887T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2172T>A
  hgvsp: ENST00000421110.1:c.2172T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1560T>A
  hgvsp: ENST00000435046.2:c.1560T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2169T>A
  hgvsp: ENST00000382330.3:c.2169T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2148T>A
  hgvsp: ENST00000319274.6:c.2148T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2148T>A
  hgvsp: ENST00000346169.2:c.2148T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2169T>A
  hgvsp: ENST00000352767.3:c.2169T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1656T>A
  hgvsp: ENST00000350481.5:c.1656T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2169T>A
  hgvsp: ENST00000424196.1:c.2169T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1563T>A
  hgvsp: ENST00000434061.2:c.1563T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1659T>A
  hgvsp: ENST00000441154.1:c.1659T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178760T>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile723Ile
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-184041256-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041256
    reference: chr 3
allele count: 90
allele frequency: 7.416196974191634e-4
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1656G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1657G>C
  hgvsp: ENSP00000398145.1:p.Ala553Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1972G>C
  hgvsp: ENSP00000403269.1:p.Ala658Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1891G>C
  hgvsp: ENSP00000407682.1:p.Ala631Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1660G>C
  hgvsp: ENSP00000399858.1:p.Ala554Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2029G>C
  hgvsp: ENSP00000391935.1:p.Ala677Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1657G>C
  hgvsp: ENSP00000317600.8:p.Ala553Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2170G>C
  hgvsp: ENSP00000371767.3:p.Ala724Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2173G>C
  hgvsp: ENSP00000413159.1:p.Ala725Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1888G>C
  hgvsp: ENSP00000376320.2:p.Ala630Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2170G>C
  hgvsp: ENSP00000416255.1:p.Ala724Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2152G>C
  hgvsp: ENSP00000343450.4:p.Ala718Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2170G>C
  hgvsp: ENSP00000338020.4:p.Ala724Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2149G>C
  hgvsp: ENSP00000316879.4:p.Ala717Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2149G>C
  hgvsp: ENSP00000323737.6:p.Ala717Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2032G>C
  hgvsp: ENSP00000395974.1:p.Ala678Pro
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1588G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178761G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1564G>C
  hgvsp: ENSP00000411826.2:p.Ala522Pro
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala724Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

3-184041261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041261
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041261
    reference: chr 3
allele count: 11
allele frequency: 9.063643255001483e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2037A>G
  hgvsp: ENST00000411531.1:c.2037A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1661A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1896A>G
  hgvsp: ENST00000427845.1:c.1896A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1662A>G
  hgvsp: ENST00000444861.1:c.1662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2154A>G
  hgvsp: ENST00000346169.2:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2154A>G
  hgvsp: ENST00000319274.6:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2034A>G
  hgvsp: ENST00000414031.1:c.2034A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1665A>G
  hgvsp: ENST00000441154.1:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2175A>G
  hgvsp: ENST00000424196.1:c.2175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2178A>G
  hgvsp: ENST00000421110.1:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2157A>G
  hgvsp: ENST00000450424.1:c.2157A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1569A>G
  hgvsp: ENST00000434061.2:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1893A>G
  hgvsp: ENST00000392537.2:c.1893A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2175A>G
  hgvsp: ENST00000352767.3:c.2175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1977A>G
  hgvsp: ENST00000426123.1:c.1977A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178766A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2175A>G
  hgvsp: ENST00000382330.3:c.2175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1566A>G
  hgvsp: ENST00000435046.2:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2157A>G
  hgvsp: ENST00000342981.4:c.2157A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr725Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-184041262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041262
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041262
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1570G>A
  hgvsp: ENSP00000411826.2:p.Val524Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1663G>A
  hgvsp: ENSP00000398145.1:p.Val555Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2155G>A
  hgvsp: ENSP00000316879.4:p.Val719Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1666G>A
  hgvsp: ENSP00000399858.1:p.Val556Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2155G>A
  hgvsp: ENSP00000323737.6:p.Val719Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178767G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2176G>A
  hgvsp: ENSP00000371767.3:p.Val726Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1663G>A
  hgvsp: ENSP00000317600.8:p.Val555Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1567G>A
  hgvsp: ENSP00000404754.2:p.Val523Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1897G>A
  hgvsp: ENSP00000407682.1:p.Val633Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2158G>A
  hgvsp: ENSP00000343450.4:p.Val720Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2176G>A
  hgvsp: ENSP00000416255.1:p.Val726Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2179G>A
  hgvsp: ENSP00000413159.1:p.Val727Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1978G>A
  hgvsp: ENSP00000403269.1:p.Val660Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2158G>A
  hgvsp: ENSP00000391412.1:p.Val720Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1894G>A
  hgvsp: ENSP00000376320.2:p.Val632Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2038G>A
  hgvsp: ENSP00000395974.1:p.Val680Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2176G>A
  hgvsp: ENSP00000338020.4:p.Val726Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1594G>A
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val726Met
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

3-184041274-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041274
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2188G>C
  hgvsp: ENSP00000416255.1:p.Glu730Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1675G>C
  hgvsp: ENSP00000317600.8:p.Glu559Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1906G>C
  hgvsp: ENSP00000376320.2:p.Glu636Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2170G>C
  hgvsp: ENSP00000391412.1:p.Glu724Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2050G>C
  hgvsp: ENSP00000395974.1:p.Glu684Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2167G>C
  hgvsp: ENSP00000316879.4:p.Glu723Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2191G>C
  hgvsp: ENSP00000413159.1:p.Glu731Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1909G>C
  hgvsp: ENSP00000407682.1:p.Glu637Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2047G>C
  hgvsp: ENSP00000391935.1:p.Glu683Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2188G>C
  hgvsp: ENSP00000371767.3:p.Glu730Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1674G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1990G>C
  hgvsp: ENSP00000403269.1:p.Glu664Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2188G>C
  hgvsp: ENSP00000338020.4:p.Glu730Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1675G>C
  hgvsp: ENSP00000398145.1:p.Glu559Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1582G>C
  hgvsp: ENSP00000411826.2:p.Glu528Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1678G>C
  hgvsp: ENSP00000399858.1:p.Glu560Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1606G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2167G>C
  hgvsp: ENSP00000323737.6:p.Glu723Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1579G>C
  hgvsp: ENSP00000404754.2:p.Glu527Gln
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu730Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-184041277-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041277
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041277
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2053G>T
  hgvsp: ENSP00000395974.1:p.Asp685Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2170G>T
  hgvsp: ENSP00000323737.6:p.Asp724Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1585G>T
  hgvsp: ENSP00000411826.2:p.Asp529Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2191G>T
  hgvsp: ENSP00000371767.3:p.Asp731Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2191G>T
  hgvsp: ENSP00000416255.1:p.Asp731Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2194G>T
  hgvsp: ENSP00000413159.1:p.Asp732Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2050G>T
  hgvsp: ENSP00000391935.1:p.Asp684Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1993G>T
  hgvsp: ENSP00000403269.1:p.Asp665Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1909G>T
  hgvsp: ENSP00000376320.2:p.Asp637Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1677G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1681G>T
  hgvsp: ENSP00000399858.1:p.Asp561Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1678G>T
  hgvsp: ENSP00000398145.1:p.Asp560Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2173G>T
  hgvsp: ENSP00000391412.1:p.Asp725Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178782G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2170G>T
  hgvsp: ENSP00000316879.4:p.Asp724Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1582G>T
  hgvsp: ENSP00000404754.2:p.Asp528Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2191G>T
  hgvsp: ENSP00000338020.4:p.Asp731Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2173G>T
  hgvsp: ENSP00000343450.4:p.Asp725Tyr
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1678G>T
  hgvsp: ENSP00000317600.8:p.Asp560Tyr
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp731Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184041280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041280
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2173A>G
  hgvsp: ENSP00000323737.6:p.Ile725Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1585A>G
  hgvsp: ENSP00000404754.2:p.Ile529Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1681A>G
  hgvsp: ENSP00000398145.1:p.Ile561Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1681A>G
  hgvsp: ENSP00000317600.8:p.Ile561Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2053A>G
  hgvsp: ENSP00000391935.1:p.Ile685Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1996A>G
  hgvsp: ENSP00000403269.1:p.Ile666Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2056A>G
  hgvsp: ENSP00000395974.1:p.Ile686Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1588A>G
  hgvsp: ENSP00000411826.2:p.Ile530Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2197A>G
  hgvsp: ENSP00000413159.1:p.Ile733Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2194A>G
  hgvsp: ENSP00000416255.1:p.Ile732Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2194A>G
  hgvsp: ENSP00000338020.4:p.Ile732Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1915A>G
  hgvsp: ENSP00000407682.1:p.Ile639Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2194A>G
  hgvsp: ENSP00000371767.3:p.Ile732Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1912A>G
  hgvsp: ENSP00000376320.2:p.Ile638Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2173A>G
  hgvsp: ENSP00000316879.4:p.Ile725Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2176A>G
  hgvsp: ENSP00000391412.1:p.Ile726Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178785A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1680A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2176A>G
  hgvsp: ENSP00000343450.4:p.Ile726Val
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile732Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-184041283-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041283
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1687A>C
  hgvsp: ENSP00000399858.1:p.Lys563Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1684A>C
  hgvsp: ENSP00000317600.8:p.Lys562Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2197A>C
  hgvsp: ENSP00000338020.4:p.Lys733Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2056A>C
  hgvsp: ENSP00000391935.1:p.Lys686Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2179A>C
  hgvsp: ENSP00000343450.4:p.Lys727Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1615A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2176A>C
  hgvsp: ENSP00000323737.6:p.Lys726Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2200A>C
  hgvsp: ENSP00000413159.1:p.Lys734Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2197A>C
  hgvsp: ENSP00000416255.1:p.Lys733Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1915A>C
  hgvsp: ENSP00000376320.2:p.Lys639Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.1999A>C
  hgvsp: ENSP00000403269.1:p.Lys667Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1684A>C
  hgvsp: ENSP00000398145.1:p.Lys562Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2176A>C
  hgvsp: ENSP00000316879.4:p.Lys726Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1918A>C
  hgvsp: ENSP00000407682.1:p.Lys640Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2197A>C
  hgvsp: ENSP00000371767.3:p.Lys733Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2059A>C
  hgvsp: ENSP00000395974.1:p.Lys687Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1591A>C
  hgvsp: ENSP00000411826.2:p.Lys531Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178788A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1683A>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys733Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-184041286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041286
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1594C>T
  hgvsp: ENST00000434061.2:c.1594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1918C>T
  hgvsp: ENST00000392537.2:c.1918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178791C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2200C>T
  hgvsp: ENST00000424196.1:c.2200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2182C>T
  hgvsp: ENST00000450424.1:c.2182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2179C>T
  hgvsp: ENST00000346169.2:c.2179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1687C>T
  hgvsp: ENST00000350481.5:c.1687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1591C>T
  hgvsp: ENST00000435046.2:c.1591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2179C>T
  hgvsp: ENST00000319274.6:c.2179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2059C>T
  hgvsp: ENST00000414031.1:c.2059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2203C>T
  hgvsp: ENST00000421110.1:c.2203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2200C>T
  hgvsp: ENST00000352767.3:c.2200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1921C>T
  hgvsp: ENST00000427845.1:c.1921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1686C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1618C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2200C>T
  hgvsp: ENST00000382330.3:c.2200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2002C>T
  hgvsp: ENST00000426123.1:c.2002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2062C>T
  hgvsp: ENST00000411531.1:c.2062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2182C>T
  hgvsp: ENST00000342981.4:c.2182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu734Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-184041288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041288
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041288
    reference: chr 3
allele count: 7
allele frequency: 5.767868031179447e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1689G>C
  hgvsp: ENST00000444861.1:c.1689G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1923G>C
  hgvsp: ENST00000427845.1:c.1923G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2202G>C
  hgvsp: ENST00000352767.3:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2184G>C
  hgvsp: ENST00000450424.1:c.2184G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1593G>C
  hgvsp: ENST00000435046.2:c.1593G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1689G>C
  hgvsp: ENST00000350481.5:c.1689G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1692G>C
  hgvsp: ENST00000441154.1:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2181G>C
  hgvsp: ENST00000346169.2:c.2181G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2061G>C
  hgvsp: ENST00000414031.1:c.2061G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2181G>C
  hgvsp: ENST00000319274.6:c.2181G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1620G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2184G>C
  hgvsp: ENST00000342981.4:c.2184G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1920G>C
  hgvsp: ENST00000392537.2:c.1920G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1596G>C
  hgvsp: ENST00000434061.2:c.1596G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2205G>C
  hgvsp: ENST00000421110.1:c.2205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178793G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2004G>C
  hgvsp: ENST00000426123.1:c.2004G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2064G>C
  hgvsp: ENST00000411531.1:c.2064G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1688G>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu734Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-184041319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041319
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041319
    reference: chr 3
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1627A>G
  hgvsp: ENSP00000411826.2:p.Ser543Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2236A>G
  hgvsp: ENSP00000413159.1:p.Ser746Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1951A>G
  hgvsp: ENSP00000376320.2:p.Ser651Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2212A>G
  hgvsp: ENSP00000316879.4:p.Ser738Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2212A>G
  hgvsp: ENSP00000323737.6:p.Ser738Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2233A>G
  hgvsp: ENSP00000416255.1:p.Ser745Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2035A>G
  hgvsp: ENSP00000403269.1:p.Ser679Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1720A>G
  hgvsp: ENSP00000398145.1:p.Ser574Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2233A>G
  hgvsp: ENSP00000371767.3:p.Ser745Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2215A>G
  hgvsp: ENSP00000343450.4:p.Ser739Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2233A>G
  hgvsp: ENSP00000338020.4:p.Ser745Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1723A>G
  hgvsp: ENSP00000399858.1:p.Ser575Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1719A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1720A>G
  hgvsp: ENSP00000317600.8:p.Ser574Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2215A>G
  hgvsp: ENSP00000391412.1:p.Ser739Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2092A>G
  hgvsp: ENSP00000391935.1:p.Ser698Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1954A>G
  hgvsp: ENSP00000407682.1:p.Ser652Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2095A>G
  hgvsp: ENSP00000395974.1:p.Ser699Gly
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1624A>G
  hgvsp: ENSP00000404754.2:p.Ser542Gly
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser745Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-184041329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041329
    reference: chr 3
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2243C>G
  hgvsp: ENSP00000371767.3:p.Thr748Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2243C>G
  hgvsp: ENSP00000416255.1:p.Thr748Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1634C>G
  hgvsp: ENSP00000404754.2:p.Thr545Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2246C>G
  hgvsp: ENSP00000413159.1:p.Thr749Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2222C>G
  hgvsp: ENSP00000316879.4:p.Thr741Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2243C>G
  hgvsp: ENSP00000338020.4:p.Thr748Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1733C>G
  hgvsp: ENSP00000399858.1:p.Thr578Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1730C>G
  hgvsp: ENSP00000317600.8:p.Thr577Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2102C>G
  hgvsp: ENSP00000391935.1:p.Thr701Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2225C>G
  hgvsp: ENSP00000391412.1:p.Thr742Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2045C>G
  hgvsp: ENSP00000403269.1:p.Thr682Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178834C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2105C>G
  hgvsp: ENSP00000395974.1:p.Thr702Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1637C>G
  hgvsp: ENSP00000411826.2:p.Thr546Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1961C>G
  hgvsp: ENSP00000376320.2:p.Thr654Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2222C>G
  hgvsp: ENSP00000323737.6:p.Thr741Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1730C>G
  hgvsp: ENSP00000398145.1:p.Thr577Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1661C>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1729C>G
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr748Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

3-184041329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041329
    reference: chr 3
allele count: 36
allele frequency: 2.97073822844977e-4
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1661C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2222C>T
  hgvsp: ENSP00000316879.4:p.Thr741Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2243C>T
  hgvsp: ENSP00000338020.4:p.Thr748Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2222C>T
  hgvsp: ENSP00000323737.6:p.Thr741Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2102C>T
  hgvsp: ENSP00000391935.1:p.Thr701Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1637C>T
  hgvsp: ENSP00000411826.2:p.Thr546Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178834C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2243C>T
  hgvsp: ENSP00000371767.3:p.Thr748Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1730C>T
  hgvsp: ENSP00000317600.8:p.Thr577Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1733C>T
  hgvsp: ENSP00000399858.1:p.Thr578Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2225C>T
  hgvsp: ENSP00000391412.1:p.Thr742Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2243C>T
  hgvsp: ENSP00000416255.1:p.Thr748Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1961C>T
  hgvsp: ENSP00000376320.2:p.Thr654Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1729C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2246C>T
  hgvsp: ENSP00000413159.1:p.Thr749Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2045C>T
  hgvsp: ENSP00000403269.1:p.Thr682Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2225C>T
  hgvsp: ENSP00000343450.4:p.Thr742Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1964C>T
  hgvsp: ENSP00000407682.1:p.Thr655Met
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1634C>T
  hgvsp: ENSP00000404754.2:p.Thr545Met
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr748Met
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

3-184041330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041330
    reference: chr 3
allele count: 3
allele frequency: 2.475778632379884e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1734G>A
  hgvsp: ENST00000441154.1:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2226G>A
  hgvsp: ENST00000450424.1:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2226G>A
  hgvsp: ENST00000342981.4:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2103G>A
  hgvsp: ENST00000414031.1:c.2103G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2223G>A
  hgvsp: ENST00000346169.2:c.2223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2244G>A
  hgvsp: ENST00000424196.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1962G>A
  hgvsp: ENST00000392537.2:c.1962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2244G>A
  hgvsp: ENST00000382330.3:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2244G>A
  hgvsp: ENST00000352767.3:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2247G>A
  hgvsp: ENST00000421110.1:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2223G>A
  hgvsp: ENST00000319274.6:c.2223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1730G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1638G>A
  hgvsp: ENST00000434061.2:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1635G>A
  hgvsp: ENST00000435046.2:c.1635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2046G>A
  hgvsp: ENST00000426123.1:c.2046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1662G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178835G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1731G>A
  hgvsp: ENST00000444861.1:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1965G>A
  hgvsp: ENST00000427845.1:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr748Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-184041332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041332
    reference: chr 3
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178837C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1732C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1964C>T
  hgvsp: ENSP00000376320.2:p.Ala655Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1664C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2246C>T
  hgvsp: ENSP00000371767.3:p.Ala749Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2228C>T
  hgvsp: ENSP00000391412.1:p.Ala743Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2105C>T
  hgvsp: ENSP00000391935.1:p.Ala702Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2249C>T
  hgvsp: ENSP00000413159.1:p.Ala750Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1733C>T
  hgvsp: ENSP00000317600.8:p.Ala578Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1637C>T
  hgvsp: ENSP00000404754.2:p.Ala546Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2225C>T
  hgvsp: ENSP00000316879.4:p.Ala742Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2048C>T
  hgvsp: ENSP00000403269.1:p.Ala683Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1640C>T
  hgvsp: ENSP00000411826.2:p.Ala547Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2246C>T
  hgvsp: ENSP00000338020.4:p.Ala749Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2246C>T
  hgvsp: ENSP00000416255.1:p.Ala749Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2228C>T
  hgvsp: ENSP00000343450.4:p.Ala743Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2225C>T
  hgvsp: ENSP00000323737.6:p.Ala742Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2108C>T
  hgvsp: ENSP00000395974.1:p.Ala703Val
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1736C>T
  hgvsp: ENSP00000399858.1:p.Ala579Val
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala749Val
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: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-184041333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041333
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041333
    reference: chr 3
allele count: 2
allele frequency: 1.650873311982039e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1968G>A
  hgvsp: ENST00000427845.1:c.1968G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1734G>A
  hgvsp: ENST00000350481.5:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2106G>A
  hgvsp: ENST00000414031.1:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1965G>A
  hgvsp: ENST00000392537.2:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1734G>A
  hgvsp: ENST00000444861.1:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1641G>A
  hgvsp: ENST00000434061.2:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2247G>A
  hgvsp: ENST00000424196.1:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2247G>A
  hgvsp: ENST00000382330.3:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2250G>A
  hgvsp: ENST00000421110.1:c.2250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2229G>A
  hgvsp: ENST00000450424.1:c.2229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2226G>A
  hgvsp: ENST00000319274.6:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1638G>A
  hgvsp: ENST00000435046.2:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2226G>A
  hgvsp: ENST00000346169.2:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2229G>A
  hgvsp: ENST00000342981.4:c.2229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178838G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1737G>A
  hgvsp: ENST00000441154.1:c.1737G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1733G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2247G>A
  hgvsp: ENST00000352767.3:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2109G>A
  hgvsp: ENST00000411531.1:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala749Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-184041347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041347
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041347
    reference: chr 3
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2240G>A
  hgvsp: ENSP00000323737.6:p.Arg747Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1652G>A
  hgvsp: ENSP00000404754.2:p.Arg551Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1979G>A
  hgvsp: ENSP00000376320.2:p.Arg660Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2120G>A
  hgvsp: ENSP00000391935.1:p.Arg707Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1747G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2261G>A
  hgvsp: ENSP00000338020.4:p.Arg754Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1748G>A
  hgvsp: ENSP00000398145.1:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2240G>A
  hgvsp: ENSP00000316879.4:p.Arg747Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1982G>A
  hgvsp: ENSP00000407682.1:p.Arg661Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2261G>A
  hgvsp: ENSP00000416255.1:p.Arg754Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2243G>A
  hgvsp: ENSP00000391412.1:p.Arg748Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1655G>A
  hgvsp: ENSP00000411826.2:p.Arg552Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2264G>A
  hgvsp: ENSP00000413159.1:p.Arg755Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2063G>A
  hgvsp: ENSP00000403269.1:p.Arg688Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1751G>A
  hgvsp: ENSP00000399858.1:p.Arg584Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2243G>A
  hgvsp: ENSP00000343450.4:p.Arg748Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2123G>A
  hgvsp: ENSP00000395974.1:p.Arg708Gln
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1679G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1748G>A
  hgvsp: ENSP00000317600.8:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg754Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-184041349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041349
    reference: chr 3
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1654G>A
  hgvsp: ENSP00000404754.2:p.Gly552Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2263G>A
  hgvsp: ENSP00000371767.3:p.Gly755Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1657G>A
  hgvsp: ENSP00000411826.2:p.Gly553Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1749G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1753G>A
  hgvsp: ENSP00000399858.1:p.Gly585Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1981G>A
  hgvsp: ENSP00000376320.2:p.Gly661Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2266G>A
  hgvsp: ENSP00000413159.1:p.Gly756Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2263G>A
  hgvsp: ENSP00000338020.4:p.Gly755Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1681G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2263G>A
  hgvsp: ENSP00000416255.1:p.Gly755Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2122G>A
  hgvsp: ENSP00000391935.1:p.Gly708Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2242G>A
  hgvsp: ENSP00000323737.6:p.Gly748Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2242G>A
  hgvsp: ENSP00000316879.4:p.Gly748Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2245G>A
  hgvsp: ENSP00000391412.1:p.Gly749Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1984G>A
  hgvsp: ENSP00000407682.1:p.Gly662Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2245G>A
  hgvsp: ENSP00000343450.4:p.Gly749Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1750G>A
  hgvsp: ENSP00000317600.8:p.Gly584Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1750G>A
  hgvsp: ENSP00000398145.1:p.Gly584Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2125G>A
  hgvsp: ENSP00000395974.1:p.Gly709Arg
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly755Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-184041363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041363
    reference: chr 3
allele count: 4
allele frequency: 3.307206402751596e-5
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1668T>C
  hgvsp: ENST00000435046.2:c.1668T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2277T>C
  hgvsp: ENST00000382330.3:c.2277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2079T>C
  hgvsp: ENST00000426123.1:c.2079T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2280T>C
  hgvsp: ENST00000421110.1:c.2280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2256T>C
  hgvsp: ENST00000319274.6:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1764T>C
  hgvsp: ENST00000350481.5:c.1764T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2139T>C
  hgvsp: ENST00000411531.1:c.2139T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2259T>C
  hgvsp: ENST00000450424.1:c.2259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178868T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2277T>C
  hgvsp: ENST00000424196.1:c.2277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.1995T>C
  hgvsp: ENST00000392537.2:c.1995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2277T>C
  hgvsp: ENST00000352767.3:c.2277T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1695T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.1998T>C
  hgvsp: ENST00000427845.1:c.1998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1671T>C
  hgvsp: ENST00000434061.2:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2256T>C
  hgvsp: ENST00000346169.2:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2136T>C
  hgvsp: ENST00000414031.1:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1763T>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1764T>C
  hgvsp: ENST00000444861.1:c.1764T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala759Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

3-184041378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041378
    reference: chr 3
allele count: 3
allele frequency: 2.483402592672307e-5
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2010C>T
  hgvsp: ENST00000392537.2:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178883C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2295C>T
  hgvsp: ENST00000421110.1:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1782C>T
  hgvsp: ENST00000441154.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2274C>T
  hgvsp: ENST00000450424.1:c.2274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2274C>T
  hgvsp: ENST00000342981.4:c.2274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2271C>T
  hgvsp: ENST00000346169.2:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2292C>T
  hgvsp: ENST00000382330.3:c.2292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2154C>T
  hgvsp: ENST00000411531.1:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2292C>T
  hgvsp: ENST00000352767.3:c.2292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2094C>T
  hgvsp: ENST00000426123.1:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2292C>T
  hgvsp: ENST00000424196.1:c.2292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1686C>T
  hgvsp: ENST00000434061.2:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1778C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1779C>T
  hgvsp: ENST00000444861.1:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1683C>T
  hgvsp: ENST00000435046.2:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1779C>T
  hgvsp: ENST00000350481.5:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2151C>T
  hgvsp: ENST00000414031.1:c.2151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2271C>T
  hgvsp: ENST00000319274.6:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr764Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

3-184041380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041380
    reference: chr 3
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178885A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2273A>G
  hgvsp: ENSP00000323737.6:p.Gln758Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2294A>G
  hgvsp: ENSP00000371767.3:p.Gln765Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2294A>G
  hgvsp: ENSP00000338020.4:p.Gln765Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1784A>G
  hgvsp: ENSP00000399858.1:p.Gln595Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2276A>G
  hgvsp: ENSP00000343450.4:p.Gln759Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2297A>G
  hgvsp: ENSP00000413159.1:p.Gln766Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1781A>G
  hgvsp: ENSP00000398145.1:p.Gln594Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2012A>G
  hgvsp: ENSP00000376320.2:p.Gln671Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2273A>G
  hgvsp: ENSP00000316879.4:p.Gln758Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1688A>G
  hgvsp: ENSP00000411826.2:p.Gln563Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1712A>G
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2294A>G
  hgvsp: ENSP00000416255.1:p.Gln765Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2276A>G
  hgvsp: ENSP00000391412.1:p.Gln759Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1781A>G
  hgvsp: ENSP00000317600.8:p.Gln594Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1685A>G
  hgvsp: ENSP00000404754.2:p.Gln562Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2156A>G
  hgvsp: ENSP00000395974.1:p.Gln719Arg
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2015A>G
  hgvsp: ENSP00000407682.1:p.Gln672Arg
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln765Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-184041394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041394
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041394
    reference: chr 3
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+13C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178899C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+13C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-184041395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041395
    reference: chr 3
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178900C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+14C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+14C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-184041397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041397
    reference: chr 3
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178902G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+16G>A
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+16G>A
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-184041398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041398
    reference: chr 3
allele count: 47
allele frequency: 3.908458902970429e-4
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178903C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+17C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+17C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-184041404-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041404
    reference: chr 3
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178909G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+23G>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+23G>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

3-184041404-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041402
    reference: chr 3
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+30_2157+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+30_*1781+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+30_1782+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+30_2097+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+30_2154+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+30_1689+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+30_2274+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+30_2277+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+30_*1713+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+30_1782+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+30_2013+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+30_2277+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+30_2274+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+30_2295+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+30_1785+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+30_2298+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+30_2295+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178916_2106+178917delTC
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+30_2016+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+30_2295+31delTC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+30_1686+31delTC
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: GTC
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-184041414-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041414
    reference: chr 3
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178919A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+33A>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+33A>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-184041418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041418
    reference: chr 3
allele count: 6
allele frequency: 5.007594852192492e-5
allele num: 119818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178923C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+37C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+37C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

3-184041420-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041417
    reference: chr 3
allele count: 17
allele frequency: 1.419742776014698e-4
allele num: 119740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+41_*1781+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+41_2277+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+41_2295+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+41_1689+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+41_2295+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+41_2154+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+41_2274+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+41_2013+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+41_2274+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178927_2106+178929delTCC
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+41_2295+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+41_2016+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+41_1686+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+41_2298+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+41_1782+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+41_2097+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+41_2157+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+41_1782+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+41_1785+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+41_2277+43delTCC
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+41_*1713+43delTCC
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TCTC
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-184041421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041421
    reference: chr 3
allele count: 4
allele frequency: 3.342525277847414e-5
allele num: 119670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178926C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+40C>T
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+40C>T
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

3-184041426-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 184041426
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 184041426
    reference: chr 3
allele count: 1
allele frequency: 8.372684952610603e-6
allele num: 119436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000316879
  ensembl transcript: ENST00000346169
  gene symbol: EIF4G1
  hgvsc: ENST00000346169.2:c.2274+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391412
  ensembl transcript: ENST00000450424
  gene symbol: EIF4G1
  hgvsc: ENST00000450424.1:c.2277+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000376320
  ensembl transcript: ENST00000392537
  gene symbol: EIF4G1
  hgvsc: ENST00000392537.2:c.2013+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000403269
  ensembl transcript: ENST00000426123
  gene symbol: EIF4G1
  hgvsc: ENST00000426123.1:c.2097+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000391935
  ensembl transcript: ENST00000414031
  gene symbol: EIF4G1
  hgvsc: ENST00000414031.1:c.2154+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000416255
  ensembl transcript: ENST00000424196
  gene symbol: EIF4G1
  hgvsc: ENST00000424196.1:c.2295+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000390755
  ensembl transcript: ENST00000413967
  gene symbol: EIF4G1
  hgvsc: ENST00000413967.1:c.*1781+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000413159
  ensembl transcript: ENST00000421110
  gene symbol: EIF4G1
  hgvsc: ENST00000421110.1:c.2298+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000395974
  ensembl transcript: ENST00000411531
  gene symbol: EIF4G1
  hgvsc: ENST00000411531.1:c.2157+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000411826
  ensembl transcript: ENST00000434061
  gene symbol: EIF4G1
  hgvsc: ENST00000434061.2:c.1689+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000398145
  ensembl transcript: ENST00000444861
  gene symbol: EIF4G1
  hgvsc: ENST00000444861.1:c.1782+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.2106+178931G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000338020
  ensembl transcript: ENST00000352767
  gene symbol: EIF4G1
  hgvsc: ENST00000352767.3:c.2295+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000407682
  ensembl transcript: ENST00000427845
  gene symbol: EIF4G1
  hgvsc: ENST00000427845.1:c.2016+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000323737
  ensembl transcript: ENST00000319274
  gene symbol: EIF4G1
  hgvsc: ENST00000319274.6:c.2274+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000343450
  ensembl transcript: ENST00000342981
  gene symbol: EIF4G1
  hgvsc: ENST00000342981.4:c.2277+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000404754
  ensembl transcript: ENST00000435046
  gene symbol: EIF4G1
  hgvsc: ENST00000435046.2:c.1686+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000400351
  ensembl transcript: ENST00000442406
  gene symbol: EIF4G1
  hgvsc: ENST00000442406.1:c.*1713+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000317600
  ensembl transcript: ENST00000350481
  gene symbol: EIF4G1
  hgvsc: ENST00000350481.5:c.1782+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000399858
  ensembl transcript: ENST00000441154
  gene symbol: EIF4G1
  hgvsc: ENST00000441154.1:c.1785+45G>C
  variant of: http://identifiers.org/hgnc/3296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114867
  ensembl protein: ENSP00000371767
  ensembl transcript: ENST00000382330
  gene symbol: EIF4G1
  hgvsc: ENST00000382330.3:c.2295+45G>C
  variant of: http://identifiers.org/hgnc/3296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 5105
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2840
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4674
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2503
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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East Asian
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ClippingRankSum
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QD
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VQSLOD
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DP
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FS
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MQ
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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African
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European (Finnish)
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Other
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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VQSLOD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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FS
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DP
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MQ
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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Other
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Latino
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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South Asian
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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QD
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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QD
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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Other
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African
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South Asian
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BaseQRankSum
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FS
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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QD
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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African
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European (Non-Finnish)
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 713

Latino
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allele frequency: 1.468301951977889e-3
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num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 8.703128299496213e-3
allele num: 66298
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 15

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7245
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14819
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4325
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2391
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9688
bin: 9.75e1
variant carriers: 16

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
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: 16
allele frequency: 1.849283402681461e-3
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
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: 16452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.042605e6

FS
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeDepth
all individuals: 2391
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14819
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7245
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20745
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5759
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9688
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
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: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215657670799903e-4
allele num: 16452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.042605e6

FS
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5824
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 14871
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20808
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2395
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9677
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9518
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.427773731488225e-4
allele num: 16476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.28e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.041216e6

GenotypeDepth
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20811
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5848
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14896
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2393
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7264
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 341
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 1456
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9673
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 5096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522567612385805e-5
allele num: 66334
num of homozygotes: 0

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

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

African
type: Population
allele count: 7
allele frequency: 6.903353057199211e-4
allele num: 10140
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: 13
allele frequency: 1.122819139747797e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.246e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.043562e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000403269
ensembl transcript: ENST00000426123
gene symbol: EIF4G1
hgvsc: ENST00000426123.1:c.1912-8C>T
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1597-8C>T
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5823
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14954
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20849
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5115
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9661
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.697e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.039946e6

FS
type: SiteQuality
SIO_000300: 1.6259e1

VQSLOD
type: SiteQuality
SIO_000300: -2.342e0

QD
type: SiteQuality
SIO_000300: 1.27e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000404754
ensembl transcript: ENST00000435046
gene symbol: EIF4G1
hgvsc: ENST00000435046.2:c.1501-3_1501-1delCAG
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178698_2106+178700delCAG
variant of: http://identifiers.org/hgnc/3261

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1528-3_*1528-1delCAG
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 4347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7279
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5827
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20862
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14957
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9668
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

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

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: 3
allele frequency: 4.520795660036166e-5
allele num: 66360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.574e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 5.767e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 2.040299e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000399858
ensembl transcript: ENST00000441154
gene symbol: EIF4G1
hgvsc: ENST00000441154.1:c.1604G>C
hgvsp: ENSP00000399858.1:p.Gly535Ala
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1835G>C
hgvsp: ENSP00000407682.1:p.Gly612Ala
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14990
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1456
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5813
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 20894
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7292
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4359
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9678
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1922
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.531481593058986e-5
allele num: 66388
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
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: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e0

DP
type: SiteQuality
SIO_000300: 2.041926e6

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1609C>A
hgvsp: ENSP00000317600.8:p.Pro537Thr
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1540C>A
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 15009
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5786
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20924
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2400
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4366
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7305
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9682
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9592
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1923
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

DP
type: SiteQuality
SIO_000300: 2.041903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000395974
ensembl transcript: ENST00000411531
gene symbol: EIF4G1
hgvsc: ENST00000411531.1:c.1987C>T
hgvsp: ENSP00000395974.1:p.Arg663Trp
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000343450
ensembl transcript: ENST00000342981
gene symbol: EIF4G1
hgvsc: ENST00000342981.4:c.2107C>T
hgvsp: ENSP00000343450.4:p.Arg703Trp
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20919
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5781
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7313
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1925
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 4.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 2.041953e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000398145
ensembl transcript: ENST00000444861
gene symbol: EIF4G1
hgvsc: ENST00000444861.1:c.1616G>A
hgvsp: ENSP00000398145.1:p.Arg539His
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1547G>A
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 5811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7316
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15030
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2403
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20946
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9694
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.043086e6

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1852T>G
hgvsp: ENSP00000407682.1:p.Ser618Ala
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000371767
ensembl transcript: ENST00000382330
gene symbol: EIF4G1
hgvsc: ENST00000382330.3:c.2131T>G
hgvsp: ENSP00000371767.3:p.Ser711Ala
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 5833
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2404
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15031
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7317
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20941
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9694
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3844
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

DP
type: SiteQuality
SIO_000300: 2.042775e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1887e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178723C>G
variant of: http://identifiers.org/hgnc/3261

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1619C>G
hgvsp: ENSP00000317600.8:p.Ser540Cys
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 15031
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7317
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5842
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20945
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9694
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23705
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.056e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.578e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.042989e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1885A>G
hgvsp: ENSP00000407682.1:p.Ile629Val
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1651A>G
hgvsp: ENSP00000317600.8:p.Ile551Val
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7319
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4372
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2405
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15056
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20995
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9697
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.258e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

FS
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.047304e6

QD
type: SiteQuality
SIO_000300: 1.237e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000403269
ensembl transcript: ENST00000426123
gene symbol: EIF4G1
hgvsc: ENST00000426123.1:c.1971T>A
hgvsp: ENST00000426123.1:c.1971T>A(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000343450
ensembl transcript: ENST00000342981
gene symbol: EIF4G1
hgvsc: ENST00000342981.4:c.2151T>A
hgvsp: ENST00000342981.4:c.2151T>A(p.%3D)
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 21001
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15056
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4373
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2405
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9664
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9696
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 2.047553e6

FS
type: SiteQuality
SIO_000300: 2.041e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000391412
ensembl transcript: ENST00000450424
gene symbol: EIF4G1
hgvsc: ENST00000450424.1:c.2152G>C
hgvsp: ENSP00000391412.1:p.Ala718Pro
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000404754
ensembl transcript: ENST00000435046
gene symbol: EIF4G1
hgvsc: ENST00000435046.2:c.1561G>C
hgvsp: ENSP00000404754.2:p.Ala521Pro
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21005
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7319
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4373
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2405
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15062
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 88

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9694
bin: 9.75e1
variant carriers: 90

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

GenotypeQuality
all individuals: 3808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 86
allele frequency: 1.289587332053743e-3
allele num: 66688
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.467e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.051084e6

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1593A>G
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1662A>G
hgvsp: ENST00000350481.5:c.1662A>G(p.%3D)
variant of: http://identifiers.org/hgnc/3296

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

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15095
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6118
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4386
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21027
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7331
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1933
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9626
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

DP
type: SiteQuality
SIO_000300: 2.032041e6

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000391935
ensembl transcript: ENST00000414031
gene symbol: EIF4G1
hgvsc: ENST00000414031.1:c.2035G>A
hgvsp: ENSP00000391935.1:p.Val679Met
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000390755
ensembl transcript: ENST00000413967
gene symbol: EIF4G1
hgvsc: ENST00000413967.1:c.*1662G>A
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7330
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21027
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15101
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 6124
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24021
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.777e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.994e1

DP
type: SiteQuality
SIO_000300: 2.030148e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178779G>C
variant of: http://identifiers.org/hgnc/3261

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000343450
ensembl transcript: ENST00000342981
gene symbol: EIF4G1
hgvsc: ENST00000342981.4:c.2170G>C
hgvsp: ENSP00000343450.4:p.Glu724Gln
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7331
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6119
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15098
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21035
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3872
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3813
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.030028e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 5.438e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.094e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.553e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1609G>T
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1912G>T
hgvsp: ENSP00000407682.1:p.Asp638Tyr
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7331
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6121
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21033
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 2.029995e6

FS
type: SiteQuality
SIO_000300: 3.585e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000399858
ensembl transcript: ENST00000441154
gene symbol: EIF4G1
hgvsc: ENST00000441154.1:c.1684A>G
hgvsp: ENSP00000399858.1:p.Ile562Val
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1612A>G
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 15099
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7330
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6112
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21033
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.399e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 2.029897e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000404754
ensembl transcript: ENST00000435046
gene symbol: EIF4G1
hgvsc: ENST00000435046.2:c.1588A>C
hgvsp: ENSP00000404754.2:p.Lys530Gln
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000391412
ensembl transcript: ENST00000450424
gene symbol: EIF4G1
hgvsc: ENST00000450424.1:c.2179A>C
hgvsp: ENSP00000391412.1:p.Lys727Gln
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6121
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15098
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21025
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9690
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.029628e6

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.238e0

FS
type: SiteQuality
SIO_000300: 2.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.214e0

QD
type: SiteQuality
SIO_000300: 1.956e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000398145
ensembl transcript: ENST00000444861
gene symbol: EIF4G1
hgvsc: ENST00000444861.1:c.1687C>T
hgvsp: ENST00000444861.1:c.1687C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000399858
ensembl transcript: ENST00000441154
gene symbol: EIF4G1
hgvsc: ENST00000441154.1:c.1690C>T
hgvsp: ENST00000441154.1:c.1690C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 206
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 892
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15095
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6119
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21021
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.02925e6

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.254e0

QD
type: SiteQuality
SIO_000300: 1.383e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

FS
type: SiteQuality
SIO_000300: 3.901e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000416255
ensembl transcript: ENST00000424196
gene symbol: EIF4G1
hgvsc: ENST00000424196.1:c.2202G>C
hgvsp: ENST00000424196.1:c.2202G>C(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000371767
ensembl transcript: ENST00000382330
gene symbol: EIF4G1
hgvsc: ENST00000382330.3:c.2202G>C
hgvsp: ENST00000382330.3:c.2202G>C(p.%3D)
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6121
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15092
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21014
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9616
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9683
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049412329095706e-4
allele num: 66704
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: 2.242e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

DP
type: SiteQuality
SIO_000300: 2.028919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1651A>G
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178824A>G
variant of: http://identifiers.org/hgnc/3261

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7330
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15061
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6084
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20912
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2409
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9612
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 2.025006e6

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.878e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 3.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1964C>G
hgvsp: ENSP00000407682.1:p.Thr655Arg
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000343450
ensembl transcript: ENST00000342981
gene symbol: EIF4G1
hgvsc: ENST00000342981.4:c.2225C>G
hgvsp: ENSP00000343450.4:p.Thr742Arg
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15045
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20857
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6055
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2409
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9613
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.262e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.023719e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000395974
ensembl transcript: ENST00000411531
gene symbol: EIF4G1
hgvsc: ENST00000411531.1:c.2105C>T
hgvsp: ENSP00000395974.1:p.Thr702Met
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000398145
ensembl transcript: ENST00000444861
gene symbol: EIF4G1
hgvsc: ENST00000444861.1:c.1730C>T
hgvsp: ENSP00000398145.1:p.Thr577Met
variant of: http://identifiers.org/hgnc/3296

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

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2409
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6055
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15045
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 200
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 216
bin: 7.75e1
variant carriers: 5

GenotypeDepth
all individuals: 7328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20857
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 77
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9613
bin: 9.75e1
variant carriers: 36

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.997485979501063e-3
allele num: 10342
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: 2
allele frequency: 3.00228173411793e-5
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 2.023719e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 1.225e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000395974
ensembl transcript: ENST00000411531
gene symbol: EIF4G1
hgvsc: ENST00000411531.1:c.2106G>A
hgvsp: ENST00000411531.1:c.2106G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000317600
ensembl transcript: ENST00000350481
gene symbol: EIF4G1
hgvsc: ENST00000350481.5:c.1731G>A
hgvsp: ENST00000350481.5:c.1731G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7333
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15058
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6064
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 20853
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2411
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9587
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.021341e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.1967C>T
hgvsp: ENSP00000407682.1:p.Ala656Val
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000398145
ensembl transcript: ENST00000444861
gene symbol: EIF4G1
hgvsc: ENST00000444861.1:c.1733C>T
hgvsp: ENSP00000398145.1:p.Ala578Val
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6051
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4391
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15056
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7334
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2410
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20846
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

FS
type: SiteQuality
SIO_000300: 7.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 2.020952e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000403269
ensembl transcript: ENST00000426123
gene symbol: EIF4G1
hgvsc: ENST00000426123.1:c.2049G>A
hgvsp: ENST00000426123.1:c.2049G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1665G>A
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 20840
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7334
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2412
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 180
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4390
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15057
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9582
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23759
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.02054e6

FS
type: SiteQuality
SIO_000300: 2.036e0

QD
type: SiteQuality
SIO_000300: 1.485e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000371767
ensembl transcript: ENST00000382330
gene symbol: EIF4G1
hgvsc: ENST00000382330.3:c.2261G>A
hgvsp: ENSP00000371767.3:p.Arg754Gln
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178852G>A
variant of: http://identifiers.org/hgnc/3261

GenotypeDepth
all individuals: 263
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7336
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5999
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20760
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15041
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1458
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9608
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.091e1

FS
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.261e0

DP
type: SiteQuality
SIO_000300: 2.018056e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.134e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -1.08e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000403269
ensembl transcript: ENST00000426123
gene symbol: EIF4G1
hgvsc: ENST00000426123.1:c.2065G>A
hgvsp: ENSP00000403269.1:p.Gly689Arg
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000145191
ensembl protein: ENSP00000409142
ensembl transcript: ENST00000444495
gene symbol: EIF2B5
hgvsc: ENST00000444495.1:c.2106+178854G>A
variant of: http://identifiers.org/hgnc/3261

GenotypeDepth
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2407
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20761
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7335
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5993
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1458
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9578
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 6.899e0

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 2.01769e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000343450
ensembl transcript: ENST00000342981
gene symbol: EIF4G1
hgvsc: ENST00000342981.4:c.2259T>C
hgvsp: ENST00000342981.4:c.2259T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000399858
ensembl transcript: ENST00000441154
gene symbol: EIF4G1
hgvsc: ENST00000441154.1:c.1767T>C
hgvsp: ENST00000441154.1:c.1767T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2405
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4388
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20695
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5941
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15017
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9574
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 4
allele frequency: 6.017933441656135e-5
allele num: 66468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 6.68e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 2.015322e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000407682
ensembl transcript: ENST00000427845
gene symbol: EIF4G1
hgvsc: ENST00000427845.1:c.2013C>T
hgvsp: ENST00000427845.1:c.2013C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000400351
ensembl transcript: ENST00000442406
gene symbol: EIF4G1
hgvsc: ENST00000442406.1:c.*1710C>T
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 7313
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1452
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14932
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2399
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5942
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20588
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9563
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.211e0

DP
type: SiteQuality
SIO_000300: 2.010511e6

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.227e1

MQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000391935
ensembl transcript: ENST00000414031
gene symbol: EIF4G1
hgvsc: ENST00000414031.1:c.2153A>G
hgvsp: ENSP00000391935.1:p.Gln718Arg
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000403269
ensembl transcript: ENST00000426123
gene symbol: EIF4G1
hgvsc: ENST00000426123.1:c.2096A>G
hgvsp: ENSP00000403269.1:p.Gln699Arg
variant of: http://identifiers.org/hgnc/3296

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000114867
ensembl protein: ENSP00000390755
ensembl transcript: ENST00000413967
gene symbol: EIF4G1
hgvsc: ENST00000413967.1:c.*1780A>G
variant of: http://identifiers.org/hgnc/3296

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14897
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20557
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5932
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 506
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7305
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9558
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 506
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
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: 6604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.008671e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5970
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20104
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1447
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2382
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14391
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7194
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9544
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 1.897e0

DP
type: SiteQuality
SIO_000300: 1.988097e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.069e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.52e1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeDepth
all individuals: 882
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20042
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2380
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1448
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7188
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4339
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5964
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14346
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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South Asian
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Other
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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African
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FS
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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Other
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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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FS
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VQSLOD
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7917
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.91374e6

MQRankSum
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SIO_000300: 1.82e0

MQ
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SIO_000300: 5.743e1

VQSLOD
type: SiteQuality
SIO_000300: -1.543e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 1.877e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 2

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 878
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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bin: 1.75e1
variant carriers: 1

GenotypeDepth
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bin: 2.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9493
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3679
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17629
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variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.371393600279769e-4
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.496e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

FS
type: SiteQuality
SIO_000300: 5.735e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 1.894874e6

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 3

GenotypeDepth
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bin: 9.75e1
variant carriers: 2

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2343
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 5608
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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bin: 4.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 210
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 5.25e1
variant carriers: 1

GenotypeDepth
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bin: 2.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1979
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4708
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 1.472609463970155e-3
allele num: 10186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.512e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.788e1

BaseQRankSum
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SIO_000300: 4.05e-1

VQSLOD
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SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.048e0

DP
type: SiteQuality
SIO_000300: 1.880108e6

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 210
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2463
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16071
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variant carriers: 0

GenotypeQuality
all individuals: 9487
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4699
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variant carriers: 0

GenotypeQuality
all individuals: 7478
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variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.430724355858046e-4
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65754
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
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SIO_000300: 6.39e-1

VQSLOD
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SIO_000300: 2.36e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
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SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.652e1

DP
type: SiteQuality
SIO_000300: 1.878857e6

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 2802
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variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 403
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
all individuals: 1435
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variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.75e1
variant carriers: 0