http://identifiers.org/exac.variant/1-47042377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47042377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47042377
    reference: chr 1
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.24-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.320-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.488-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.137-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.199-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.217-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.217-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*162-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.263-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.235-51G>T
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-47046112-T-TTCTTATGGAATATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046126
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 56652
alternate allele: TTCTTATGGAATATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-47046118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046118
    reference: chr 1
allele count: 8
allele frequency: 1.394262609362473e-4
allele num: 57378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*305A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2782A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+84A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+84A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-47046130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046130
    reference: chr 1
allele count: 1
allele frequency: 1.635376463661935e-5
allele num: 61148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*293A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2770A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+72A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

1-47046133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046133
    reference: chr 1
allele count: 2
allele frequency: 3.197851044098366e-5
allele num: 62542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2767T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*290T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+69T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+69T>C
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-47046139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046139
    reference: chr 1
allele count: 1
allele frequency: 1.446382597124591e-5
allele num: 69138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*284A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2761A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+63A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+63A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-47046141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046141
    reference: chr 1
allele count: 1
allele frequency: 1.379652879335559e-5
allele num: 72482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2759G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*282G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*19G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+61G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+61G>T
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-47046145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046145
    reference: chr 1
allele count: 1
allele frequency: 1.237930180737806e-5
allele num: 80780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*278T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2755T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+57T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+57T>C
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-47046166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046166
    reference: chr 1
allele count: 1
allele frequency: 9.02918231724935e-6
allele num: 110752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.270C>T
  hgvsp: ENST00000465783.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*257C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+36C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2734C>T
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys90Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

1-47046166-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046166
    reference: chr 1
allele count: 5
allele frequency: 4.514591158624675e-5
allele num: 110752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*257C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.270C>A
  hgvsp: ENSP00000434834.1:p.Cys90Ter
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2734C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+36C>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+36C>A
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys90Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-47046167-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046167
    reference: chr 1
allele count: 1
allele frequency: 8.951750067138126e-6
allele num: 111710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*256G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.269G>C
  hgvsp: ENSP00000434834.1:p.Cys90Ser
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2733G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+35G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+35G>C
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys90Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-47046176-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046176
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046176
    reference: chr 1
allele count: 1
allele frequency: 8.525730655117144e-6
allele num: 117292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.260C>G
  hgvsp: ENSP00000434834.1:p.Ala87Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.319+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2724C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*247C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.216+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*161+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.216+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.487+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.262+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.23+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.234+26C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.198+26C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala87Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

1-47046204-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046204
    reference: chr 1
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.214A>C
  hgvsp: ENSP00000432665.1:p.Lys72Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.232A>C
  hgvsp: ENSP00000434021.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.232A>C
  hgvsp: ENSP00000440974.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.196A>C
  hgvsp: ENSP00000431837.1:p.Lys66Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*159A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.232A>C
  hgvsp: ENSP00000339573.5:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.232A>C
  hgvsp: ENSP00000436709.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.232A>C
  hgvsp: ENSP00000433038.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.232A>C
  hgvsp: ENSP00000434834.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.232A>C
  hgvsp: ENSP00000411135.2:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.232A>C
  hgvsp: ENSP00000361013.4:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.232A>C
  hgvsp: ENSP00000435163.1:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.317A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.232A>C
  hgvsp: ENSP00000361014.4:p.Lys78Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2696A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.260A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.485A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*219A>C
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys78Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-47046207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046207
    reference: chr 1
allele count: 7
allele frequency: 5.778628978998811e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.229G>A
  hgvsp: ENSP00000436709.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.229G>A
  hgvsp: ENSP00000433038.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.482G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.229G>A
  hgvsp: ENSP00000435163.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.229G>A
  hgvsp: ENSP00000361014.4:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.229G>A
  hgvsp: ENSP00000434834.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.229G>A
  hgvsp: ENSP00000339573.5:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.229G>A
  hgvsp: ENSP00000440974.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.257G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.229G>A
  hgvsp: ENSP00000411135.2:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.211G>A
  hgvsp: ENSP00000339197.3:p.Val71Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.211G>A
  hgvsp: ENSP00000432665.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.229G>A
  hgvsp: ENSP00000434021.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.18G>A
  hgvsp: ENST00000371944.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2693G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.193G>A
  hgvsp: ENSP00000431837.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.314G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val77Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-47046211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046211
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.14T>C
  hgvsp: ENSP00000361012.4:p.Met5Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*212T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.225T>C
  hgvsp: ENST00000529170.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.478T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.225T>C
  hgvsp: ENST00000545730.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.207T>C
  hgvsp: ENST00000528237.1:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.225T>C
  hgvsp: ENST00000371946.4:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.225T>C
  hgvsp: ENST00000528077.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.225T>C
  hgvsp: ENST00000341183.5:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.225T>C
  hgvsp: ENST00000371945.4:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.225T>C
  hgvsp: ENST00000531769.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.207T>C
  hgvsp: ENST00000342571.3:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.253T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.225T>C
  hgvsp: ENST00000465783.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.225T>C
  hgvsp: ENST00000496619.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2689T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.189T>C
  hgvsp: ENST00000532783.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.225T>C
  hgvsp: ENST00000428112.2:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.310T>C
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met5Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-47046215-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046216
    reference: chr 1
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.220dupG
  hgvsp: ENSP00000434021.1:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*207dupG
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.184dupG
  hgvsp: ENSP00000431837.1:p.Glu62GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.220dupG
  hgvsp: ENSP00000433038.1:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.220dupG
  hgvsp: ENSP00000339573.5:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2684dupG
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.220dupG
  hgvsp: ENSP00000434834.1:p.Glu74GlyfsTer11
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.220dupG
  hgvsp: ENSP00000436709.1:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.202dupG
  hgvsp: ENSP00000432665.1:p.Glu68GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.220dupG
  hgvsp: ENSP00000435163.1:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.220dupG
  hgvsp: ENSP00000361014.4:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*147dupG
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.220dupG
  hgvsp: ENSP00000361013.4:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.473dupG
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.220dupG
  hgvsp: ENSP00000440974.1:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.202dupG
  hgvsp: ENSP00000339197.3:p.Glu68GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.248dupG
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.220dupG
  hgvsp: ENSP00000411135.2:p.Glu74GlyfsTer17
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.305dupG
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu74GlyfsTer17
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-47046216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046216
    reference: chr 1
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.220G>C
  hgvsp: ENSP00000339573.5:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.220G>C
  hgvsp: ENSP00000361014.4:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*207G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.220G>C
  hgvsp: ENSP00000411135.2:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.184G>C
  hgvsp: ENSP00000431837.1:p.Glu62Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.220G>C
  hgvsp: ENSP00000361013.4:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.473G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.220G>C
  hgvsp: ENSP00000434021.1:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2684G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.202G>C
  hgvsp: ENSP00000432665.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.220G>C
  hgvsp: ENSP00000440974.1:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.220G>C
  hgvsp: ENSP00000433038.1:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.202G>C
  hgvsp: ENSP00000339197.3:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.220G>C
  hgvsp: ENSP00000434834.1:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.305G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.248G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.220G>C
  hgvsp: ENSP00000436709.1:p.Glu74Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*147G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.9G>C
  hgvsp: ENSP00000361012.4:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu74Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-47046235-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046235
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.165G>T
  hgvsp: ENST00000532783.1:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.183G>T
  hgvsp: ENST00000528237.1:c.183G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.201G>T
  hgvsp: ENST00000496619.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.201G>T
  hgvsp: ENST00000531769.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.201G>T
  hgvsp: ENST00000465783.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.201G>T
  hgvsp: ENST00000529170.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.201G>T
  hgvsp: ENST00000428112.2:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-11G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.201G>T
  hgvsp: ENST00000545730.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2665G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*188G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.201G>T
  hgvsp: ENST00000371946.4:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.201G>T
  hgvsp: ENST00000341183.5:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*128G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.183G>T
  hgvsp: ENST00000342571.3:c.183G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.229G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.201G>T
  hgvsp: ENST00000371945.4:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.286G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.201G>T
  hgvsp: ENST00000528077.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val67Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-47046237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046237
    reference: chr 1
allele count: 5
allele frequency: 4.120109430106464e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2663G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.199G>A
  hgvsp: ENSP00000435163.1:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.199G>A
  hgvsp: ENSP00000434834.1:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.199G>A
  hgvsp: ENSP00000361014.4:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.199G>A
  hgvsp: ENSP00000436709.1:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-13G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.199G>A
  hgvsp: ENSP00000434021.1:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.163G>A
  hgvsp: ENSP00000431837.1:p.Val55Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.181G>A
  hgvsp: ENSP00000432665.1:p.Val61Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.181G>A
  hgvsp: ENSP00000339197.3:p.Val61Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.199G>A
  hgvsp: ENSP00000411135.2:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.227G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.199G>A
  hgvsp: ENSP00000440974.1:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.284G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.199G>A
  hgvsp: ENSP00000339573.5:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.452G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.199G>A
  hgvsp: ENSP00000361013.4:p.Val67Met
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val67Met
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-47046242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046242
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.176G>A
  hgvsp: ENSP00000432665.1:p.Gly59Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.194G>A
  hgvsp: ENSP00000436709.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.194G>A
  hgvsp: ENSP00000361013.4:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.194G>A
  hgvsp: ENSP00000435163.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.194G>A
  hgvsp: ENSP00000440974.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.194G>A
  hgvsp: ENSP00000361014.4:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.194G>A
  hgvsp: ENSP00000434021.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.279G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.194G>A
  hgvsp: ENSP00000339573.5:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.222G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.194G>A
  hgvsp: ENSP00000434834.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-18G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.158G>A
  hgvsp: ENSP00000431837.1:p.Gly53Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.194G>A
  hgvsp: ENSP00000411135.2:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.447G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.176G>A
  hgvsp: ENSP00000339197.3:p.Gly59Asp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.194G>A
  hgvsp: ENSP00000433038.1:p.Gly65Asp
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly65Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-47046246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046246
    reference: chr 1
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*177C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.275C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.190C>G
  hgvsp: ENSP00000434021.1:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.443C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.190C>G
  hgvsp: ENSP00000411135.2:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-22C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.190C>G
  hgvsp: ENSP00000436709.1:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.190C>G
  hgvsp: ENSP00000440974.1:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.190C>G
  hgvsp: ENSP00000361014.4:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.190C>G
  hgvsp: ENSP00000433038.1:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.190C>G
  hgvsp: ENSP00000361013.4:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.218C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.190C>G
  hgvsp: ENSP00000339573.5:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*117C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.172C>G
  hgvsp: ENSP00000432665.1:p.Gln58Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.172C>G
  hgvsp: ENSP00000339197.3:p.Gln58Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.190C>G
  hgvsp: ENSP00000434834.1:p.Gln64Glu
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2654C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.154C>G
  hgvsp: ENSP00000431837.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln64Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-47046255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046255
    reference: chr 1
allele count: 14
allele frequency: 1.153611628405214e-4
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.181G>A
  hgvsp: ENSP00000434021.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.181G>A
  hgvsp: ENSP00000434834.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.266G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.434G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.181G>A
  hgvsp: ENSP00000339573.5:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.163G>A
  hgvsp: ENSP00000432665.1:p.Ala55Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.181G>A
  hgvsp: ENSP00000361014.4:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.181G>A
  hgvsp: ENSP00000440974.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.163G>A
  hgvsp: ENSP00000339197.3:p.Ala55Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.209G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.181G>A
  hgvsp: ENSP00000436709.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.181G>A
  hgvsp: ENSP00000411135.2:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.181G>A
  hgvsp: ENSP00000361013.4:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2645G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*108G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.181G>A
  hgvsp: ENSP00000435163.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-31G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.145G>A
  hgvsp: ENSP00000431837.1:p.Ala49Thr
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala61Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-47046256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046256
    reference: chr 1
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.180T>C
  hgvsp: ENST00000529170.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.180T>C
  hgvsp: ENST00000528077.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.180T>C
  hgvsp: ENST00000371946.4:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.180T>C
  hgvsp: ENST00000496619.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.265T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.180T>C
  hgvsp: ENST00000371945.4:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.208T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.180T>C
  hgvsp: ENST00000341183.5:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*167T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.180T>C
  hgvsp: ENST00000465783.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.433T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.162T>C
  hgvsp: ENST00000528237.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.180T>C
  hgvsp: ENST00000545730.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.180T>C
  hgvsp: ENST00000428112.2:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.180T>C
  hgvsp: ENST00000531769.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*107T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-32T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.144T>C
  hgvsp: ENST00000532783.1:c.144T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.162T>C
  hgvsp: ENST00000342571.3:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr60Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-47046257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046257
    reference: chr 1
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.179A>G
  hgvsp: ENSP00000434021.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.179A>G
  hgvsp: ENSP00000339573.5:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*166A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.179A>G
  hgvsp: ENSP00000434834.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.179A>G
  hgvsp: ENSP00000435163.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.179A>G
  hgvsp: ENSP00000361014.4:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.161A>G
  hgvsp: ENSP00000339197.3:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.143A>G
  hgvsp: ENSP00000431837.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.432A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.179A>G
  hgvsp: ENSP00000436709.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*106A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.179A>G
  hgvsp: ENSP00000411135.2:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.161A>G
  hgvsp: ENSP00000432665.1:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.207A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2643A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.179A>G
  hgvsp: ENSP00000361013.4:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.179A>G
  hgvsp: ENSP00000433038.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-33A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.264A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr60Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-47046260-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046260
    reference: chr 1
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.176C>G
  hgvsp: ENSP00000434834.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.176C>G
  hgvsp: ENSP00000361013.4:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.429C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.158C>G
  hgvsp: ENSP00000432665.1:p.Ala53Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.176C>G
  hgvsp: ENSP00000411135.2:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.176C>G
  hgvsp: ENSP00000440974.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-36C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.176C>G
  hgvsp: ENSP00000433038.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.176C>G
  hgvsp: ENSP00000339573.5:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.176C>G
  hgvsp: ENSP00000436709.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.140C>G
  hgvsp: ENSP00000431837.1:p.Ala47Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*163C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.261C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.158C>G
  hgvsp: ENSP00000339197.3:p.Ala53Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.176C>G
  hgvsp: ENSP00000361014.4:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.176C>G
  hgvsp: ENSP00000435163.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.176C>G
  hgvsp: ENSP00000434021.1:p.Ala59Gly
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.204C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala59Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-47046263-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046263
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.173G>T
  hgvsp: ENSP00000440974.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.173G>T
  hgvsp: ENSP00000361013.4:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.155G>T
  hgvsp: ENSP00000432665.1:p.Gly52Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.173G>T
  hgvsp: ENSP00000436709.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.173G>T
  hgvsp: ENSP00000411135.2:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.426G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.173G>T
  hgvsp: ENSP00000434834.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.173G>T
  hgvsp: ENSP00000435163.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.173G>T
  hgvsp: ENSP00000339573.5:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*160G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.173G>T
  hgvsp: ENSP00000434021.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.173G>T
  hgvsp: ENSP00000361014.4:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.173G>T
  hgvsp: ENSP00000433038.1:p.Gly58Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.201G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.258G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*100G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.155G>T
  hgvsp: ENSP00000339197.3:p.Gly52Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2637G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.137G>T
  hgvsp: ENSP00000431837.1:p.Gly46Val
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly58Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

1-47046266-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046266
    reference: chr 1
allele count: 16
allele frequency: 1.318565400843882e-4
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.134A>C
  hgvsp: ENSP00000431837.1:p.Glu45Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.152A>C
  hgvsp: ENSP00000432665.1:p.Glu51Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.170A>C
  hgvsp: ENSP00000435163.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.170A>C
  hgvsp: ENSP00000339573.5:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-42A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.423A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.152A>C
  hgvsp: ENSP00000339197.3:p.Glu51Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.170A>C
  hgvsp: ENSP00000411135.2:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.170A>C
  hgvsp: ENSP00000434834.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.170A>C
  hgvsp: ENSP00000361014.4:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.170A>C
  hgvsp: ENSP00000436709.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.170A>C
  hgvsp: ENSP00000433038.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*157A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.198A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.170A>C
  hgvsp: ENSP00000434021.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2634A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.170A>C
  hgvsp: ENSP00000440974.1:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*97A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.170A>C
  hgvsp: ENSP00000361013.4:p.Glu57Ala
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu57Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-47046267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046267
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.169G>A
  hgvsp: ENSP00000434834.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.169G>A
  hgvsp: ENSP00000361013.4:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.169G>A
  hgvsp: ENSP00000433038.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.169G>A
  hgvsp: ENSP00000411135.2:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.169G>A
  hgvsp: ENSP00000339573.5:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.151G>A
  hgvsp: ENSP00000432665.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.169G>A
  hgvsp: ENSP00000434021.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.422G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2633G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.169G>A
  hgvsp: ENSP00000361014.4:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.169G>A
  hgvsp: ENSP00000440974.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.169G>A
  hgvsp: ENSP00000436709.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.169G>A
  hgvsp: ENSP00000435163.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-43G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.151G>A
  hgvsp: ENSP00000339197.3:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.254G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*96G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.133G>A
  hgvsp: ENSP00000431837.1:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.197G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu57Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

1-47046281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046281
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.155C>T
  hgvsp: ENSP00000361013.4:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.183C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.155C>T
  hgvsp: ENSP00000433038.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.155C>T
  hgvsp: ENSP00000361014.4:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.137C>T
  hgvsp: ENSP00000432665.1:p.Ser46Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2619C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.240C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.155C>T
  hgvsp: ENSP00000434834.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.155C>T
  hgvsp: ENSP00000434021.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.119C>T
  hgvsp: ENSP00000431837.1:p.Ser40Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.155C>T
  hgvsp: ENSP00000339573.5:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.155C>T
  hgvsp: ENSP00000436709.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.155C>T
  hgvsp: ENSP00000435163.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.155C>T
  hgvsp: ENSP00000440974.1:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-57C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.365C>T
  hgvsp: ENSP00000431985.1:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.408C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.155C>T
  hgvsp: ENSP00000411135.2:p.Ser52Phe
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser52Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

1-47046288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046288
    reference: chr 1
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.148C>G
  hgvsp: ENSP00000411135.2:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.130C>G
  hgvsp: ENSP00000339197.3:p.Leu44Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.148C>G
  hgvsp: ENSP00000435163.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.176C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-64C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.358C>G
  hgvsp: ENSP00000431985.1:p.Leu120Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.148C>G
  hgvsp: ENSP00000440974.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.148C>G
  hgvsp: ENSP00000436709.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*135C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.148C>G
  hgvsp: ENSP00000434834.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.130C>G
  hgvsp: ENSP00000432665.1:p.Leu44Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.148C>G
  hgvsp: ENSP00000433038.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.148C>G
  hgvsp: ENSP00000361014.4:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.148C>G
  hgvsp: ENSP00000361013.4:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.112C>G
  hgvsp: ENSP00000431837.1:p.Leu38Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.148C>G
  hgvsp: ENSP00000434021.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.233C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.148C>G
  hgvsp: ENSP00000339573.5:p.Leu50Val
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu50Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-47046300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046300
    reference: chr 1
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2600G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.137-1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-47046308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046308
    reference: chr 1
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2592C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-9C>T
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-47046317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046317
    reference: chr 1
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2583C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-18C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-18C>T
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-47046328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046328
    reference: chr 1
allele count: 7
allele frequency: 5.84844180800401e-5
allele num: 119690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2572G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-29G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-29G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

1-47046330-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046330
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046330
    reference: chr 1
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2570T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-31T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-31T>C
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-47046331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046331
    reference: chr 1
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2569C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-32C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-32C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-47046340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046340
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046340
    reference: chr 1
allele count: 2
allele frequency: 1.682566924099406e-5
allele num: 118866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2560G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-41G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-41G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-47046341-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046341
    reference: chr 1
allele count: 1
allele frequency: 8.428718329090879e-6
allele num: 118642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2559G>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-42G>C
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-47046348-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47046348
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47046348
    reference: chr 1
allele count: 1
allele frequency: 8.508321138073035e-6
allele num: 117532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-75-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.119-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+2552G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.390-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*64-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.347-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.222-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*124-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.165-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.119-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.101-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.137-49G>T
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-47048508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048508
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048508
    reference: chr 1
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.367C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+392C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+392C>T
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-47048543-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048543
    reference: chr 1
allele count: 1
allele frequency: 9.276437847866419e-5
allele num: 10780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.*6T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.332T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+357T>A
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-47048587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048587
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.298-10C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.145C>T
  hgvsp: ENSP00000434051.1:p.Leu49Phe
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+313C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+313C>T
  variant of: http://identifiers.org/hgnc/7110
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu49Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-47048605-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048605
    reference: chr 1
allele count: 1
allele frequency: 9.119095385737735e-5
allele num: 10966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.137-10C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.298-28C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+295C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+295C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-47048620-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048620
    reference: chr 1
allele count: 1
allele frequency: 9.005763688760806e-5
allele num: 11104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.298-43T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+280T>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.137-25T>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-47048634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048634
    reference: chr 1
allele count: 1
allele frequency: 8.912655971479501e-5
allele num: 11220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.298-57A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.137-39A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+266A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+266A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-47048644-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048644
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 11318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.298-67A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.137-49A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+256A>C
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-47048851-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048850
    reference: chr 1
allele count: 1
allele frequency: 8.522678848415634e-6
allele num: 117334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+48delT
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+48delT
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CA
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

1-47048856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048856
    reference: chr 1
allele count: 1
allele frequency: 8.515276405872134e-6
allele num: 117436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+44A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-47048859-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048859
    reference: chr 1
allele count: 1
allele frequency: 8.517307168165713e-6
allele num: 117408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+41C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+41C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-47048873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048873
    reference: chr 1
allele count: 24
allele frequency: 2.035865157864377e-4
allele num: 117886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+27G>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+27G>T
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-47048879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048879
    reference: chr 1
allele count: 1
allele frequency: 8.462384700008463e-6
allele num: 118170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+21A>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-47048881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048881
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048881
    reference: chr 1
allele count: 5
allele frequency: 4.228043768709094e-5
allele num: 118258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+19C>G
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+19C>G
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-47048885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048885
    reference: chr 1
allele count: 24
allele frequency: 2.025384823116392e-4
allele num: 118496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+15T>C
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+15T>C
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-47048895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048895
    reference: chr 1
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+5G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+5G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.136+5G>A
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS

1-47048899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048899
    reference: chr 1
allele count: 2
allele frequency: 1.671961210499916e-5
allele num: 119620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.221+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.118+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.346+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-76+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.100+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.297+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.118+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.136+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*123+1G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.164+1G>A
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.136+1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-47048926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048926
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.110C>T
  hgvsp: ENSP00000434834.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.110C>T
  hgvsp: ENSP00000339573.5:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.110C>T
  hgvsp: ENSP00000436709.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*97C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.271C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.74C>T
  hgvsp: ENSP00000431837.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.110C>T
  hgvsp: ENSP00000434051.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.110C>T
  hgvsp: ENSP00000434021.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-102C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.110C>T
  hgvsp: ENSP00000435163.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.110C>T
  hgvsp: ENSP00000440974.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.320C>T
  hgvsp: ENSP00000431985.1:p.Thr107Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.110C>T
  hgvsp: ENSP00000433038.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.110C>T
  hgvsp: ENSP00000361013.4:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.195C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.92C>T
  hgvsp: ENSP00000432665.1:p.Thr31Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.92C>T
  hgvsp: ENSP00000339197.3:p.Thr31Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.110C>T
  hgvsp: ENSP00000361014.4:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.110C>T
  hgvsp: ENSP00000434493.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr37Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-47048928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048928
    reference: chr 1
allele count: 1289
allele frequency: 1.066982319051718e-2
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-104C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.108C>T
  hgvsp: ENST00000531355.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.318C>T
  hgvsp: ENST00000532110.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.108C>T
  hgvsp: ENST00000465783.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.108C>T
  hgvsp: ENST00000526513.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.90C>T
  hgvsp: ENST00000528237.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.108C>T
  hgvsp: ENST00000529170.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.108C>T
  hgvsp: ENST00000496619.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.108C>T
  hgvsp: ENST00000531769.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.90C>T
  hgvsp: ENST00000342571.3:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.269C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.193C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.136C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.72C>T
  hgvsp: ENST00000532783.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.108C>T
  hgvsp: ENST00000528077.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.108C>T
  hgvsp: ENST00000371946.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.108C>T
  hgvsp: ENST00000341183.5:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.108C>T
  hgvsp: ENST00000428112.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala36Ala
num of homozygotes: 29
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-47048932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048932
    reference: chr 1
allele count: 3
allele frequency: 2.482703829984442e-5
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.68G>A
  hgvsp: ENSP00000431837.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-108G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.132G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.104G>A
  hgvsp: ENSP00000434021.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.86G>A
  hgvsp: ENSP00000432665.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.104G>A
  hgvsp: ENSP00000411135.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.104G>A
  hgvsp: ENSP00000434051.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.86G>A
  hgvsp: ENSP00000339197.3:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.104G>A
  hgvsp: ENSP00000434834.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.104G>A
  hgvsp: ENSP00000434493.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.189G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.104G>A
  hgvsp: ENSP00000436709.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.104G>A
  hgvsp: ENSP00000435163.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.104G>A
  hgvsp: ENSP00000339573.5:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.265G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.314G>A
  hgvsp: ENSP00000431985.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.104G>A
  hgvsp: ENSP00000361014.4:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.104G>A
  hgvsp: ENSP00000433038.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-47048933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048933
    reference: chr 1
allele count: 40
allele frequency: 3.309833515374177e-4
allele num: 120852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.103C>T
  hgvsp: ENSP00000434051.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.103C>T
  hgvsp: ENSP00000433038.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.103C>T
  hgvsp: ENSP00000434493.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.103C>T
  hgvsp: ENSP00000434834.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.188C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.103C>T
  hgvsp: ENSP00000339573.5:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.67C>T
  hgvsp: ENSP00000431837.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.103C>T
  hgvsp: ENSP00000361013.4:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.103C>T
  hgvsp: ENSP00000436709.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432369
  ensembl transcript: ENST00000474868
  gene symbol: MKNK1
  hgvsc: ENST00000474868.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.103C>T
  hgvsp: ENSP00000435163.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.103C>T
  hgvsp: ENSP00000440974.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.85C>T
  hgvsp: ENSP00000432665.1:p.Arg29Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.131C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.313C>T
  hgvsp: ENSP00000431985.1:p.Arg105Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.85C>T
  hgvsp: ENSP00000339197.3:p.Arg29Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361014
  ensembl transcript: ENST00000371946
  gene symbol: MKNK1
  hgvsc: ENST00000371946.4:c.103C>T
  hgvsp: ENSP00000361014.4:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.264C>T
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.103C>T
  hgvsp: ENSP00000434021.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-47048937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47048937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47048937
    reference: chr 1
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000435163
  ensembl transcript: ENST00000529170
  gene symbol: MKNK1
  hgvsc: ENST00000529170.1:c.99G>A
  hgvsp: ENST00000529170.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000432665
  ensembl transcript: ENST00000528237
  gene symbol: MKNK1
  hgvsc: ENST00000528237.1:c.81G>A
  hgvsp: ENST00000528237.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434834
  ensembl transcript: ENST00000465783
  gene symbol: MKNK1
  hgvsc: ENST00000465783.1:c.99G>A
  hgvsp: ENST00000465783.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000440974
  ensembl transcript: ENST00000545730
  gene symbol: MKNK1
  hgvsc: ENST00000545730.1:c.99G>A
  hgvsp: ENST00000545730.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434021
  ensembl transcript: ENST00000531769
  gene symbol: MKNK1
  hgvsc: ENST00000531769.1:c.99G>A
  hgvsp: ENST00000531769.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361013
  ensembl transcript: ENST00000371945
  gene symbol: MKNK1
  hgvsc: ENST00000371945.4:c.99G>A
  hgvsp: ENST00000371945.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000433038
  ensembl transcript: ENST00000528077
  gene symbol: MKNK1
  hgvsc: ENST00000528077.1:c.99G>A
  hgvsp: ENST00000528077.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000411135
  ensembl transcript: ENST00000428112
  gene symbol: MKNK1
  hgvsc: ENST00000428112.2:c.99G>A
  hgvsp: ENST00000428112.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000436709
  ensembl transcript: ENST00000496619
  gene symbol: MKNK1
  hgvsc: ENST00000496619.1:c.99G>A
  hgvsp: ENST00000496619.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339573
  ensembl transcript: ENST00000341183
  gene symbol: MKNK1
  hgvsc: ENST00000341183.5:c.99G>A
  hgvsp: ENST00000341183.5:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431837
  ensembl transcript: ENST00000532783
  gene symbol: MKNK1
  hgvsc: ENST00000532783.1:c.63G>A
  hgvsp: ENST00000532783.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434051
  ensembl transcript: ENST00000526513
  gene symbol: MKNK1
  hgvsc: ENST00000526513.1:c.99G>A
  hgvsp: ENST00000526513.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000361012
  ensembl transcript: ENST00000371944
  gene symbol: MKNK1
  hgvsc: ENST00000371944.4:c.-113G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000434493
  ensembl transcript: ENST00000531355
  gene symbol: MKNK1
  hgvsc: ENST00000531355.1:c.99G>A
  hgvsp: ENST00000531355.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000484301
  gene symbol: MKNK1
  hgvsc: ENST00000484301.1:n.260G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000486716
  gene symbol: MKNK1
  hgvsc: ENST00000486716.1:n.184G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000431985
  ensembl transcript: ENST00000532110
  gene symbol: MKNK1
  hgvsc: ENST00000532110.1:c.309G>A
  hgvsp: ENST00000532110.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079277
  ensembl transcript: ENST00000480531
  gene symbol: MKNK1
  hgvsc: ENST00000480531.1:n.127G>A
  variant of: http://identifiers.org/hgnc/7110
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079277
  ensembl protein: ENSP00000339197
  ensembl transcript: ENST00000342571
  gene symbol: MKNK1
  hgvsc: ENST00000342571.3:c.81G>A
  hgvsp: ENST00000342571.3:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7110
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

GenotypeDepth
all individuals: 9036
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11637
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4103
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6252
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1998
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11098
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 518
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19300
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 11556
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: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.369286e6

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeDepth
all individuals: 5086
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15399
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24747
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2076
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.219e0

VQSLOD
type: SiteQuality
SIO_000300: -5.481e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

DP
type: SiteQuality
SIO_000300: 7.47269e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 4.547e1

QD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25375
bin: 7.5e0
variant carriers: 7

GenotypeDepth
all individuals: 790
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15546
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1655
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3630
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6266
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4426
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 542
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2870
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 1.465738365701722e-3
allele num: 5458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 7.72428e5

FS
type: SiteQuality
SIO_000300: 1.321e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

GenotypeDepth
all individuals: 27083
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12916
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10252
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2837
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

African
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Latino
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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MQ
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QD
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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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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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European (Finnish)
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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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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South Asian
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African
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MQRankSum
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DP
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.719e0

DP
type: SiteQuality
SIO_000300: 1.366155e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.411e0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42220
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5205
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6794
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1182
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1830
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 383
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 537
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5317
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.374298827129016e-4
allele num: 7844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.366155e6

QD
type: SiteQuality
SIO_000300: 1.305e1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 1.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.719e0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1869
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4726
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7076
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

DP
type: SiteQuality
SIO_000300: 1.375836e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeDepth
all individuals: 44896
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8037
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2019
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1997
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64818
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.177e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.156e0

FS
type: SiteQuality
SIO_000300: 3.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.428252e6

QD
type: SiteQuality
SIO_000300: 1.646e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361012
ensembl transcript: ENST00000371944
gene symbol: MKNK1
hgvsc: ENST00000371944.4:c.21A>C
hgvsp: ENST00000371944.4:c.21A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000339197
ensembl transcript: ENST00000342571
gene symbol: MKNK1
hgvsc: ENST00000342571.3:c.214A>C
hgvsp: ENSP00000339197.3:p.Lys72Gln
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2165
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45899
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9360
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.469728e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.635e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.642e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: -9.2e-3

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361013
ensembl transcript: ENST00000371945
gene symbol: MKNK1
hgvsc: ENST00000371945.4:c.229G>A
hgvsp: ENSP00000361013.4:p.Val77Ile
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9396
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45881
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 630
bin: 3.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2194
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 101
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 3933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
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: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05048322228225e-4
allele num: 66636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 1.471143e6

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000434051
ensembl transcript: ENST00000526513
gene symbol: MKNK1
hgvsc: ENST00000526513.1:c.*152T>C
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9527
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2179
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45824
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -1.873e-1

FS
type: SiteQuality
SIO_000300: 1.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.472253e6

MQRankSum
type: SiteQuality
SIO_000300: -1.389e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361012
ensembl transcript: ENST00000371944
gene symbol: MKNK1
hgvsc: ENST00000371944.4:c.9dupG
hgvsp: ENSP00000361012.4:p.Ser4GlufsTer46
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2178
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9557
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45816
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.053e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.472687e6

FS
type: SiteQuality
SIO_000300: 1.0681e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.969e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000435163
ensembl transcript: ENST00000529170
gene symbol: MKNK1
hgvsc: ENST00000529170.1:c.220G>C
hgvsp: ENSP00000435163.1:p.Glu74Gln
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 629
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2178
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9562
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45814
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.886e0

QD
type: SiteQuality
SIO_000300: 1.69e1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.473084e6

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079277
ensembl transcript: ENST00000484301
gene symbol: MKNK1
hgvsc: ENST00000484301.1:n.454G>T
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 9681
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2197
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45735
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51254
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.705e0

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.474415e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000433038
ensembl transcript: ENST00000528077
gene symbol: MKNK1
hgvsc: ENST00000528077.1:c.199G>A
hgvsp: ENSP00000433038.1:p.Val67Met
variant of: http://identifiers.org/hgnc/7110

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

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 101
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2201
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 629
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45716
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9692
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2458
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51248
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

DP
type: SiteQuality
SIO_000300: 1.474914e6

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000434493
ensembl transcript: ENST00000531355
gene symbol: MKNK1
hgvsc: ENST00000531355.1:c.136+2658G>A
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2206
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9706
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45701
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.844e1

FS
type: SiteQuality
SIO_000300: 2.043e0

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 1.474823e6

VQSLOD
type: SiteQuality
SIO_000300: -2.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.92e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000435163
ensembl transcript: ENST00000529170
gene symbol: MKNK1
hgvsc: ENST00000529170.1:c.190C>G
hgvsp: ENSP00000435163.1:p.Gln64Glu
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45681
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51248
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 9.75e1
variant carriers: 3

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

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

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 1.474874e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000433038
ensembl transcript: ENST00000528077
gene symbol: MKNK1
hgvsc: ENST00000528077.1:c.181G>A
hgvsp: ENSP00000433038.1:p.Ala61Thr
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 45629
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9737
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2209
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2468
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 51176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 11
allele frequency: 1.665657177468201e-3
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.475215e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000434493
ensembl transcript: ENST00000531355
gene symbol: MKNK1
hgvsc: ENST00000531355.1:c.136+2644T>C
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2203
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 9754
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
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: 16508
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: 11570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.474856e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 6.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000440974
ensembl transcript: ENST00000545730
gene symbol: MKNK1
hgvsc: ENST00000545730.1:c.179A>G
hgvsp: ENSP00000440974.1:p.Tyr60Cys
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45622
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2204
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51212
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
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: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.474953e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000434493
ensembl transcript: ENST00000531355
gene symbol: MKNK1
hgvsc: ENST00000531355.1:c.136+2640C>G
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2208
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9763
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 51193
bin: 6.25e1
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: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.474887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 8.042999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361012
ensembl transcript: ENST00000371944
gene symbol: MKNK1
hgvsc: ENST00000371944.4:c.-39G>T
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9772
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 630
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 506
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45588
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3966
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11568
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.474853e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.131e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079277
ensembl transcript: ENST00000486716
gene symbol: MKNK1
hgvsc: ENST00000486716.1:n.255A>C
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 65
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 624
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9774
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45576
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2208
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 153
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51196
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.098761730578958e-4
allele num: 66706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.47557e6

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000432369
ensembl transcript: ENST00000474868
gene symbol: MKNK1
hgvsc: ENST00000474868.1:c.*156G>A
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 9780
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45569
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2214
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51196
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.474913e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.898e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

QD
type: SiteQuality
SIO_000300: 1.727e1

VQSLOD
type: SiteQuality
SIO_000300: -6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000432369
ensembl transcript: ENST00000474868
gene symbol: MKNK1
hgvsc: ENST00000474868.1:c.*142C>T
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000339197
ensembl transcript: ENST00000342571
gene symbol: MKNK1
hgvsc: ENST00000342571.3:c.137C>T
hgvsp: ENSP00000339197.3:p.Ser46Phe
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2203
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9838
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51105
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 7.75e1
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: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.474163e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.241e0

FS
type: SiteQuality
SIO_000300: 5.78e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000434493
ensembl transcript: ENST00000531355
gene symbol: MKNK1
hgvsc: ENST00000531355.1:c.136+2612C>G
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079277
ensembl transcript: ENST00000484301
gene symbol: MKNK1
hgvsc: ENST00000484301.1:n.401C>G
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45277
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2208
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9831
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3950
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
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: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.472928e6

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9787
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44682
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 591
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2224
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3920
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 1.46707e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 2.427e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.433e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.619e0

QD
type: SiteQuality
SIO_000300: 7.8e0

GenotypeDepth
all individuals: 9677
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2213
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1414
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43548
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -2.926e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

FS
type: SiteQuality
SIO_000300: 2.334e0

DP
type: SiteQuality
SIO_000300: 1.45498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.326e0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2169
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41837
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2682
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9372
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
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allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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MQRankSum
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SIO_000300: 8.05e-1

VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 2

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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variant carriers: 7

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

African
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allele count: 6
allele frequency: 5.86739683160571e-4
allele num: 10226
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 16310
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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VQSLOD
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.37e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.96e1

MQRankSum
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SIO_000300: 5.620000000000001e-1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: 1.66e0

QD
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SIO_000300: 1.826e1

MQRankSum
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SIO_000300: 7.95e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.7e-3

FS
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ReadPosRankSum
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SIO_000300: -1.17e-1

ClippingRankSum
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SIO_000300: 6.03e-1

DP
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SIO_000300: 1.37466e6

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

Other
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East Asian
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allele count: 1
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allele num: 8486
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InbreedingCoeff
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SIO_000300: 2.9e-3

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0

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

European (Non-Finnish)
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allele frequency: 1.526018617427133e-5
allele num: 65530
num of homozygotes: 0

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

East Asian
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South Asian
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African
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allele frequency: 9.863878477017163e-5
allele num: 10138
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MQRankSum
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SIO_000300: -1.08e-1

InbreedingCoeff
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FS
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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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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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 (Non-Finnish)
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allele num: 65414
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South Asian
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East 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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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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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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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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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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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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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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Other
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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QD
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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East Asian
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European (Non-Finnish)
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African
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MQ
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DP
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VQSLOD
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FS
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QD
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African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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QD
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ClippingRankSum
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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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European (Non-Finnish)
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African
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 16
allele frequency: 2.437389555785754e-4
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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Latino
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allele num: 11532
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BaseQRankSum
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SIO_000300: -1.401e0

InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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Latino
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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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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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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Latino
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Other
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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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
all individuals: 124
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10869
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 22078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7760
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.932409012131716e-4
allele num: 11540
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.431241452666768e-4
allele num: 65810
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: 14692
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 2.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

DP
type: SiteQuality
SIO_000300: 2.094818e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000339197
ensembl transcript: ENST00000342571
gene symbol: MKNK1
hgvsc: ENST00000342571.3:c.118+5G>A
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000431985
ensembl transcript: ENST00000532110
gene symbol: MKNK1
hgvsc: ENST00000532110.1:c.346+5G>A
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 689
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1828
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8797
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14761
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 998
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5546
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3443
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5837
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14440
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10848
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15206
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.107365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.513e0

FS
type: SiteQuality
SIO_000300: 1.1103e1

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

GenotypeDepth
all individuals: 812
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3443
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6142
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8801
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1828
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14787
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5547
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10847
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025077895755816e-5
allele num: 66114
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.254e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 2.529e0

DP
type: SiteQuality
SIO_000300: 2.113894e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000411135
ensembl transcript: ENST00000428112
gene symbol: MKNK1
hgvsc: ENST00000428112.2:c.110C>T
hgvsp: ENSP00000411135.2:p.Thr37Ile
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079277
ensembl transcript: ENST00000480531
gene symbol: MKNK1
hgvsc: ENST00000480531.1:n.138C>T
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 14824
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15015
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6733
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3443
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5552
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1828
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7996
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1769
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24537
bin: 6.25e1
variant carriers: 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: 66482
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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: 16234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.12866e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 2.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

QD
type: SiteQuality
SIO_000300: 1.715e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.848e1

MQRankSum
type: SiteQuality
SIO_000300: -1.153e0

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000440974
ensembl transcript: ENST00000545730
gene symbol: MKNK1
hgvsc: ENST00000545730.1:c.108C>T
hgvsp: ENST00000545730.1:c.108C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361013
ensembl transcript: ENST00000371945
gene symbol: MKNK1
hgvsc: ENST00000371945.4:c.108C>T
hgvsp: ENST00000371945.4:c.108C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5552
bin: 4.25e1
variant carriers: 17

GenotypeDepth
all individuals: 3435
bin: 4.75e1
variant carriers: 20

GenotypeDepth
all individuals: 291
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 164
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1085
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 15006
bin: 2.75e1
variant carriers: 13

GenotypeDepth
all individuals: 6660
bin: 2.25e1
variant carriers: 12

GenotypeDepth
all individuals: 116
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 14842
bin: 3.25e1
variant carriers: 28

GenotypeDepth
all individuals: 183
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 617
bin: 6.25e1
variant carriers: 9

GenotypeDepth
all individuals: 93
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 1809
bin: 5.25e1
variant carriers: 6

GenotypeDepth
all individuals: 277
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 14

GenotypeDepth
all individuals: 8819
bin: 3.75e1
variant carriers: 22

GenotypeDepth
all individuals: 1215
bin: 9.75e1
variant carriers: 1088

GenotypeDepth
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 7.25e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 2855
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10993
bin: 9.75e1
variant carriers: 1258

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24464
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 354
allele frequency: 2.177925433739387e-2
allele num: 16254
num of homozygotes: 9

African
type: Population
allele count: 5
allele frequency: 4.823461315840247e-4
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 649
allele frequency: 5.614186851211073e-2
allele num: 11560
num of homozygotes: 18

East Asian
type: Population
allele count: 258
allele frequency: 2.98887859128823e-2
allele num: 8632
num of homozygotes: 2

Other
type: Population
allele count: 8
allele frequency: 8.849557522123894e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.10589651022864e-4
allele num: 66480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

DP
type: SiteQuality
SIO_000300: 2.238733e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361013
ensembl transcript: ENST00000371945
gene symbol: MKNK1
hgvsc: ENST00000371945.4:c.104G>A
hgvsp: ENSP00000361013.4:p.Arg35Gln
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000440974
ensembl transcript: ENST00000545730
gene symbol: MKNK1
hgvsc: ENST00000545730.1:c.104G>A
hgvsp: ENSP00000440974.1:p.Arg35Gln
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6733
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15231
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1087
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8944
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5596
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9811
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
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: 16276
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

FS
type: SiteQuality
SIO_000300: 9.526999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.075251e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000411135
ensembl transcript: ENST00000428112
gene symbol: MKNK1
hgvsc: ENST00000428112.2:c.103C>T
hgvsp: ENSP00000411135.2:p.Arg35Trp
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361012
ensembl transcript: ENST00000371944
gene symbol: MKNK1
hgvsc: ENST00000371944.4:c.-109C>T
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5595
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1818
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8937
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15233
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3433
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 9.75e1
variant carriers: 38

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6750
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1086
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9808
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 3227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2887
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.597579425113464e-3
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007066606525334e-5
allele num: 66510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.078644e6

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000432369
ensembl transcript: ENST00000474868
gene symbol: MKNK1
hgvsc: ENST00000474868.1:c.*86G>A
variant of: http://identifiers.org/hgnc/7110

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000079277
ensembl protein: ENSP00000361014
ensembl transcript: ENST00000371946
gene symbol: MKNK1
hgvsc: ENST00000371946.4:c.99G>A
hgvsp: ENST00000371946.4:c.99G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7110

GenotypeDepth
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6781
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 8939
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 400
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5602
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15231
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15523
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1086
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2891
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9778
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 1.769e0

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 2.073183e6