2-55463934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463934
    reference: chr 2
allele count: 6
allele frequency: 5.092254680630761e-5
allele num: 117826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2034C>T
  hgvsp: ENST00000263629.4:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2034C>T
  hgvsp: ENST00000394600.3:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2034C>T
  hgvsp: ENST00000403721.1:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38876
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His678His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-55463935-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463935
    reference: chr 2
allele count: 3
allele frequency: 2.54664606712959e-5
allele num: 117802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2033A>G
  hgvsp: ENSP00000263629.4:p.His678Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2033A>G
  hgvsp: ENSP00000378099.3:p.His678Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2033A>G
  hgvsp: ENSP00000384481.1:p.His678Arg
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His678Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

2-55463937-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463937
    reference: chr 2
allele count: 1
allele frequency: 8.523259976475802e-6
allele num: 117326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2031A>C
  hgvsp: ENSP00000263629.4:p.Lys677Asn
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2031A>C
  hgvsp: ENSP00000384481.1:p.Lys677Asn
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2031A>C
  hgvsp: ENSP00000378099.3:p.Lys677Asn
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys677Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-55463940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463940
    reference: chr 2
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2028G>C
  hgvsp: ENSP00000378099.3:p.Leu676Phe
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2028G>C
  hgvsp: ENSP00000263629.4:p.Leu676Phe
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2028G>C
  hgvsp: ENSP00000384481.1:p.Leu676Phe
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
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genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu676Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-55463942-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463942
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463942
    reference: chr 2
allele count: 5
allele frequency: 4.390740805788753e-5
allele num: 113876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2026T>C
  hgvsp: ENST00000403721.1:c.2026T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2026T>C
  hgvsp: ENST00000394600.3:c.2026T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2026T>C
  hgvsp: ENST00000263629.4:c.2026T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42613
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu676Leu
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-55463951-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463951
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463951
    reference: chr 2
allele count: 1
allele frequency: 9.101168590046962e-6
allele num: 109876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2017T>G
  hgvsp: ENSP00000384481.1:p.Leu673Val
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2017T>G
  hgvsp: ENSP00000263629.4:p.Leu673Val
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2017T>G
  hgvsp: ENSP00000378099.3:p.Leu673Val
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11261
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu673Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-55463957-C-CCTTCCAAATTACATGTCCATTACGGGTTAGTTTAAATTTTTTTTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464004
    reference: chr 2
allele count: 1
allele frequency: 9.369612472828123e-6
allele num: 106728
alternate allele: CCTTCCAAATTACATGTCCATTACGGGTTAGTTTAAATTTTTTTTGTT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-55463959-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463958
    reference: chr 2
allele count: 1
allele frequency: 9.572309223877169e-6
allele num: 104468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-4delT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-4delT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-4delT
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 30031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2012-4delT
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: TA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

2-55463963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463963
    reference: chr 2
allele count: 4
allele frequency: 3.869145499216498e-5
allele num: 103382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-7T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-7T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-7T>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2012-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-55463966-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463966
    reference: chr 2
allele count: 1
allele frequency: 9.896678674636792e-6
allele num: 101044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-10C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-10C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-10C>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25130
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-55463966-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463966
    reference: chr 2
allele count: 5
allele frequency: 4.948339337318396e-5
allele num: 101044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-10C>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-10C>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-10C>A
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-55463968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463968
    reference: chr 2
allele count: 2
allele frequency: 2.000520135235161e-5
allele num: 99974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-12A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-12A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-12A>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2198
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genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-55463990-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463990
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463990
    reference: chr 2
allele count: 83
allele frequency: 9.567943929543045e-4
allele num: 86748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-34T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-34T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-34T>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23835
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 9.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22473
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 3
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

2-55463993-AATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463993
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463990
    reference: chr 2
allele count: 1
allele frequency: 1.182536303864529e-5
allele num: 84564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-40_2012-38delCAT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-40_2012-38delCAT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-40_2012-38delCAT
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: AATG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-55463994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463994
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 84756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-38T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-38T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-38T>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-55463995-TGATAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463990
    reference: chr 2
allele count: 249
allele frequency: 2.958720501913068e-3
allele num: 84158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-44_2012-40delTTATC
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-44_2012-40delTTATC
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-44_2012-40delTTATC
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 1.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21221
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 1.75e1
  variant carriers: 2
num of homozygotes: 1
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TGATAA
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-55463997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55463997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55463997
    reference: chr 2
allele count: 198
allele frequency: 2.435064935064935e-3
allele num: 81312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-41T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-41T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-41T>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21762
  bin: 1.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 192
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19404
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7498
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-55464004-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464004
    reference: chr 2
allele count: 3
allele frequency: 3.870568199411673e-5
allele num: 77508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-48G>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-48G>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-48G>T
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2289
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 562
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-55464005-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464005
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 73390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2012-49G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2012-49G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2012-49G>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-55464382-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464382
    reference: chr 2
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+42C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+42C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+42C>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-55464382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464382
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 118142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+42C>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+42C>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+42C>A
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-55464386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464386
    reference: chr 2
allele count: 1
allele frequency: 8.463387386167439e-6
allele num: 118156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+38G>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+38G>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+38G>A
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-55464389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464389
    reference: chr 2
allele count: 3
allele frequency: 2.535711267010396e-5
allele num: 118310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+35C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+35C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+35C>T
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-55464389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464389
    reference: chr 2
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+35C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+35C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+35C>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-55464392-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464392
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464392
    reference: chr 2
allele count: 100
allele frequency: 8.446659346228566e-4
allele num: 118390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+32T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+32T>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+32T>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-55464401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464401
    reference: chr 2
allele count: 1
allele frequency: 8.416233230655287e-6
allele num: 118818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+23A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+23A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+23A>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

2-55464406-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464406
    reference: chr 2
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+18C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+18C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+18C>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 457
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-55464410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464410
    reference: chr 2
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+14A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+14A>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+14A>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8700
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

2-55464418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464418
    reference: chr 2
allele count: 2
allele frequency: 1.666611112962901e-5
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011+6C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011+6C>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011+6C>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27688
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2011+6C>G
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-55464424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464424
    reference: chr 2
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.2011G>A
  hgvsp: ENSP00000384481.1:p.Gly671Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.2011G>A
  hgvsp: ENSP00000378099.3:p.Gly671Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.2011G>A
  hgvsp: ENSP00000263629.4:p.Gly671Ser
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8765
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly671Ser
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: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-55464437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464437
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1998T>C
  hgvsp: ENST00000263629.4:c.1998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1998T>C
  hgvsp: ENST00000403721.1:c.1998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1998T>C
  hgvsp: ENST00000394600.3:c.1998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His666His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-55464438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464438
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1997A>G
  hgvsp: ENSP00000263629.4:p.His666Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1997A>G
  hgvsp: ENSP00000378099.3:p.His666Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1997A>G
  hgvsp: ENSP00000384481.1:p.His666Arg
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His666Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-55464440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464440
    reference: chr 2
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1995A>G
  hgvsp: ENST00000394600.3:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1995A>G
  hgvsp: ENST00000403721.1:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1995A>G
  hgvsp: ENST00000263629.4:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly665Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

2-55464447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464447
    reference: chr 2
allele count: 4
allele frequency: 3.299350028044475e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1988G>A
  hgvsp: ENSP00000378099.3:p.Arg663His
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1988G>A
  hgvsp: ENSP00000263629.4:p.Arg663His
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1988G>A
  hgvsp: ENSP00000384481.1:p.Arg663His
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8485
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg663His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-55464448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464448
    reference: chr 2
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1987C>T
  hgvsp: ENSP00000384481.1:p.Arg663Cys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1987C>T
  hgvsp: ENSP00000378099.3:p.Arg663Cys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1987C>T
  hgvsp: ENSP00000263629.4:p.Arg663Cys
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg663Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-55464449-GGTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464445
    reference: chr 2
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1982_1985delTAAC
  hgvsp: ENSP00000384481.1:p.Leu661ProfsTer6
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1982_1985delTAAC
  hgvsp: ENSP00000378099.3:p.Leu661ProfsTer6
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1982_1985delTAAC
  hgvsp: ENSP00000263629.4:p.Leu661ProfsTer6
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu661ProfsTer6
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: GGTTA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-55464450-GTTAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464445
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1980_1984delACTAA
  hgvsp: ENSP00000384481.1:p.Lys660AsnfsTer3
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1980_1984delACTAA
  hgvsp: ENSP00000378099.3:p.Lys660AsnfsTer3
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1980_1984delACTAA
  hgvsp: ENSP00000263629.4:p.Lys660AsnfsTer3
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8479
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28826
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys660AsnfsTer3
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: GTTAGT
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-55464459-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464459
    reference: chr 2
allele count: 65
allele frequency: 5.358703358670382e-4
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1976T>G
  hgvsp: ENSP00000378099.3:p.Phe659Cys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1976T>G
  hgvsp: ENSP00000384481.1:p.Phe659Cys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1976T>G
  hgvsp: ENSP00000263629.4:p.Phe659Cys
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8484
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 28843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe659Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-55464459-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464459
    reference: chr 2
allele count: 7
allele frequency: 5.770911309337334e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1976T>A
  hgvsp: ENSP00000384481.1:p.Phe659Tyr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1976T>A
  hgvsp: ENSP00000378099.3:p.Phe659Tyr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1976T>A
  hgvsp: ENSP00000263629.4:p.Phe659Tyr
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe659Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-55464460-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464461
    reference: chr 2
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1974dupA
  hgvsp: ENSP00000263629.4:p.Phe659IlefsTer2
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1974dupA
  hgvsp: ENSP00000378099.3:p.Phe659IlefsTer2
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1974dupA
  hgvsp: ENSP00000384481.1:p.Phe659IlefsTer2
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8394
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe659IlefsTer2
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

2-55464465-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464461
    reference: chr 2
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1966_1969delCAAA
  hgvsp: ENSP00000263629.4:p.Gln656LysfsTer5
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1966_1969delCAAA
  hgvsp: ENSP00000378099.3:p.Gln656LysfsTer5
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1966_1969delCAAA
  hgvsp: ENSP00000384481.1:p.Gln656LysfsTer5
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 28922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln656LysfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: TTTTG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-55464469-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464468
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1965delA
  hgvsp: ENSP00000384481.1:p.Lys655AsnfsTer7
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1965delA
  hgvsp: ENSP00000378099.3:p.Lys655AsnfsTer7
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1965delA
  hgvsp: ENSP00000263629.4:p.Lys655AsnfsTer7
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys655AsnfsTer7
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: GT
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-55464470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464470
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1965A>G
  hgvsp: ENST00000403721.1:c.1965A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1965A>G
  hgvsp: ENST00000394600.3:c.1965A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1965A>G
  hgvsp: ENST00000263629.4:c.1965A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys655Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-55464474-T-TCTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464478
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: TCTAA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1957_1960dupTTAG
  hgvsp: ENSP00000263629.4:p.Glu654ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1957_1960dupTTAG
  hgvsp: ENSP00000378099.3:p.Glu654ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1957_1960dupTTAG
  hgvsp: ENSP00000384481.1:p.Glu654ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu654ValfsTer8
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-55464479-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464477
    reference: chr 2
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1954_1955delCA
  hgvsp: ENSP00000384481.1:p.Gln652ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1954_1955delCA
  hgvsp: ENSP00000263629.4:p.Gln652ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1954_1955delCA
  hgvsp: ENSP00000378099.3:p.Gln652ValfsTer8
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8382
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28948
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln652ValfsTer8
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CTG
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-55464480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464480
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1955A>G
  hgvsp: ENSP00000378099.3:p.Gln652Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1955A>G
  hgvsp: ENSP00000263629.4:p.Gln652Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1955A>G
  hgvsp: ENSP00000384481.1:p.Gln652Arg
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln652Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-55464495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464495
    reference: chr 2
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1940G>A
  hgvsp: ENSP00000263629.4:p.Arg647Lys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1940G>A
  hgvsp: ENSP00000384481.1:p.Arg647Lys
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1940G>A
  hgvsp: ENSP00000378099.3:p.Arg647Lys
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3255
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genotype quality: GenotypeQuality
  all individuals: 8720
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg647Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-55464498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464498
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1937G>A
  hgvsp: ENSP00000378099.3:p.Cys646Tyr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1937G>A
  hgvsp: ENSP00000263629.4:p.Cys646Tyr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1937G>A
  hgvsp: ENSP00000384481.1:p.Cys646Tyr
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1909
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genotype quality: GenotypeQuality
  all individuals: 8699
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  variant carriers: 0
hgvs: p.Cys646Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-55464502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464502
    reference: chr 2
allele count: 7
allele frequency: 5.774624649397789e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1933G>A
  hgvsp: ENSP00000384481.1:p.Gly645Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1933G>A
  hgvsp: ENSP00000263629.4:p.Gly645Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1933G>A
  hgvsp: ENSP00000378099.3:p.Gly645Ser
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8704
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  variant carriers: 0
hgvs: p.Gly645Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-55464511-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464511
    reference: chr 2
allele count: 9
allele frequency: 7.425742574257426e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1924C>A
  hgvsp: ENSP00000384481.1:p.Pro642Thr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1924C>A
  hgvsp: ENSP00000263629.4:p.Pro642Thr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1924C>A
  hgvsp: ENSP00000378099.3:p.Pro642Thr
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8353
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro642Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-55464514-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464514
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1921G>C
  hgvsp: ENSP00000384481.1:p.Val641Leu
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1921G>C
  hgvsp: ENSP00000378099.3:p.Val641Leu
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1921G>C
  hgvsp: ENSP00000263629.4:p.Val641Leu
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29248
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 8694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val641Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-55464515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464515
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1920A>G
  hgvsp: ENST00000403721.1:c.1920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1920A>G
  hgvsp: ENST00000263629.4:c.1920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1920A>G
  hgvsp: ENST00000394600.3:c.1920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8343
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8691
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys640Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-55464522-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464522
    reference: chr 2
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1913A>T
  hgvsp: ENSP00000378099.3:p.Lys638Met
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1913A>T
  hgvsp: ENSP00000384481.1:p.Lys638Met
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1913A>T
  hgvsp: ENSP00000263629.4:p.Lys638Met
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4368
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genotype quality: GenotypeQuality
  all individuals: 195
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys638Met
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-55464534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464534
    reference: chr 2
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1901T>C
  hgvsp: ENSP00000263629.4:p.Val634Ala
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1901T>C
  hgvsp: ENSP00000378099.3:p.Val634Ala
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1901T>C
  hgvsp: ENSP00000384481.1:p.Val634Ala
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8661
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val634Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-55464535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464535
    reference: chr 2
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1900G>A
  hgvsp: ENSP00000263629.4:p.Val634Ile
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1900G>A
  hgvsp: ENSP00000378099.3:p.Val634Ile
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1900G>A
  hgvsp: ENSP00000384481.1:p.Val634Ile
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val634Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-55464549-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464549
    reference: chr 2
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1886T>G
  hgvsp: ENSP00000378099.3:p.Leu629Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1886T>G
  hgvsp: ENSP00000384481.1:p.Leu629Arg
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1886T>G
  hgvsp: ENSP00000263629.4:p.Leu629Arg
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 29227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu629Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-55464556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464556
    reference: chr 2
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1879T>C
  hgvsp: ENSP00000263629.4:p.Ser627Pro
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1879T>C
  hgvsp: ENSP00000378099.3:p.Ser627Pro
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1879T>C
  hgvsp: ENSP00000384481.1:p.Ser627Pro
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 449
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8321
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser627Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-55464558-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464559
    reference: chr 2
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1876dupG
  hgvsp: ENSP00000263629.4:p.Ala626GlyfsTer35
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1876dupG
  hgvsp: ENSP00000378099.3:p.Ala626GlyfsTer35
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1876dupG
  hgvsp: ENSP00000384481.1:p.Ala626GlyfsTer35
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala626GlyfsTer35
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

2-55464559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464559
    reference: chr 2
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1876G>A
  hgvsp: ENSP00000378099.3:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1876G>A
  hgvsp: ENSP00000263629.4:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1876G>A
  hgvsp: ENSP00000384481.1:p.Ala626Thr
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala626Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-55464560-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464560
    reference: chr 2
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1875G>T
  hgvsp: ENSP00000384481.1:p.Glu625Asp
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1875G>T
  hgvsp: ENSP00000263629.4:p.Glu625Asp
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1875G>T
  hgvsp: ENSP00000378099.3:p.Glu625Asp
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu625Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-55464563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464563
    reference: chr 2
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1872T>C
  hgvsp: ENST00000403721.1:c.1872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1872T>C
  hgvsp: ENST00000263629.4:c.1872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1872T>C
  hgvsp: ENST00000394600.3:c.1872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28786
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genotype quality: GenotypeQuality
  all individuals: 4294
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genotype quality: GenotypeQuality
  all individuals: 1888
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8307
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1872T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-55464579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464579
    reference: chr 2
allele count: 125
allele frequency: 1.039622076582721e-3
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-15C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-15C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-15C>T
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 614
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 554
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 27485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-55464591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464591
    reference: chr 2
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-27C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-27C>T
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-27C>T
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25069
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-55464603-A-AGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464606
    reference: chr 2
allele count: 2
allele frequency: 1.674817444898506e-5
allele num: 119416
alternate allele: AGAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-42_1871-40dupATC
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-42_1871-40dupATC
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-42_1871-40dupATC
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-55464603-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464603
    reference: chr 2
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-39T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-39T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-39T>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-55464605-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464604
    reference: chr 2
allele count: 2
allele frequency: 1.677570877369569e-5
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-42delA
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-42delA
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-42delA
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: AT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-55464614-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464614
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 118442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-50T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-50T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-50T>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

2-55464616-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55464616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55464617
    reference: chr 2
allele count: 8
allele frequency: 6.767502453219639e-5
allele num: 118212
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1871-53dupT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1871-53dupT
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1871-53dupT
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8203
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-55467109-ATAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467106
    reference: chr 2
allele count: 1
allele frequency: 9.574142156862745e-6
allele num: 104448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1870+35_1870+37delGTA
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1870+35_1870+37delGTA
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1870+35_1870+37delGTA
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
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genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18629
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2915
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genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: ATAC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-55467128-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467128
    reference: chr 2
allele count: 1
allele frequency: 9.080013075218828e-6
allele num: 110132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1870+19T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1870+19T>G
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1870+19T>G
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36329
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3825
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-55467133-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467133
    reference: chr 2
allele count: 2
allele frequency: 1.772264067346035e-5
allele num: 112850
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1870+14G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1870+14G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1870+14G>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-55467142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467142
    reference: chr 2
allele count: 1
allele frequency: 8.612077577594818e-6
allele num: 116116
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1870+5G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1870+5G>C
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1870+5G>C
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40283
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1870+5G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-55467142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467142
    reference: chr 2
allele count: 2
allele frequency: 1.722415515518964e-5
allele num: 116116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1870+5G>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1870+5G>A
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1870+5G>A
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
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genotype quality: GenotypeQuality
  all individuals: 202
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1870+5G>A
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-55467148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467148
    reference: chr 2
allele count: 1
allele frequency: 8.49314603115286e-6
allele num: 117742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000403492
  ensembl transcript: ENST00000418823
  gene symbol: MTIF2
  hgvsc: ENST00000418823.4:c.902A>G
  hgvsp: ENST00000418823.4:c.902A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1869A>G
  hgvsp: ENST00000403721.1:c.1869A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1869A>G
  hgvsp: ENST00000263629.4:c.1869A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1869A>G
  hgvsp: ENST00000394600.3:c.1869A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1242
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1869A>G
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-55467153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467153
    reference: chr 2
allele count: 1
allele frequency: 8.43127666391245e-6
allele num: 118606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1864C>T
  hgvsp: ENSP00000263629.4:p.Pro622Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1864C>T
  hgvsp: ENSP00000378099.3:p.Pro622Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1864C>T
  hgvsp: ENSP00000384481.1:p.Pro622Ser
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000403492
  ensembl transcript: ENST00000418823
  gene symbol: MTIF2
  hgvsc: ENST00000418823.4:c.897C>T
  hgvsp: ENSP00000403492.4:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro622Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-55467158-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55467158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55467158
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000378099
  ensembl transcript: ENST00000394600
  gene symbol: MTIF2
  hgvsc: ENST00000394600.3:c.1859A>T
  hgvsp: ENSP00000378099.3:p.Glu620Val
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000403492
  ensembl transcript: ENST00000418823
  gene symbol: MTIF2
  hgvsc: ENST00000418823.4:c.892A>T
  hgvsp: ENSP00000403492.4:p.Glu298Val
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000384481
  ensembl transcript: ENST00000403721
  gene symbol: MTIF2
  hgvsc: ENST00000403721.1:c.1859A>T
  hgvsp: ENSP00000384481.1:p.Glu620Val
  variant of: http://identifiers.org/hgnc/7441
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085760
  ensembl protein: ENSP00000263629
  ensembl transcript: ENST00000263629
  gene symbol: MTIF2
  hgvsc: ENST00000263629.4:c.1859A>T
  hgvsp: ENSP00000263629.4:p.Glu620Val
  variant of: http://identifiers.org/hgnc/7441
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu620Val
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3666
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.285412262156448e-4
allele num: 11352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.465964e6

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 1.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 671
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.63063007439879e-5
allele num: 64786
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.465738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 669
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549282682118179e-5
allele num: 64546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.59e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.458894e6

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.866e0

GenotypeQuality
all individuals: 2201
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562207086171343e-5
allele num: 64012
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 1.829e0

QD
type: SiteQuality
SIO_000300: 1.221e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.445632e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 842
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.011940902651285e-4
allele num: 9882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14642
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.798884691491275e-4
allele num: 11118
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598516576616899e-5
allele num: 62558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 7.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

QD
type: SiteQuality
SIO_000300: 1.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.406666e6

GenotypeQuality
all individuals: 2201
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658869977771142e-5
allele num: 60282
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.475e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 1.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.338386e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708058620571858e-5
allele num: 58546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

VQSLOD
type: SiteQuality
SIO_000300: -7.948e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.629e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.282647e6

GenotypeQuality
all individuals: 2288
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.745261614716046e-5
allele num: 57298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

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

DP
type: SiteQuality
SIO_000300: 1.241993e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 7.057412047002364e-5
allele num: 56678
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 12694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

FS
type: SiteQuality
SIO_000300: 3.559e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

QD
type: SiteQuality
SIO_000300: 1.72e1

DP
type: SiteQuality
SIO_000300: 1.214601e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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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 frequency: 0.0e0
allele num: 55350
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South Asian
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allele frequency: 8.159268929503917e-5
allele num: 12256
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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QD
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.033423667570009e-5
allele num: 55350
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 12256
num of homozygotes: 0

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

MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
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SIO_000300: 1.169678e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 12040
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7476
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African
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allele count: 2
allele frequency: 2.23463687150838e-4
allele num: 8950
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54814
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6112
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Latino
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Other
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allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 1.464e0

QD
type: SiteQuality
SIO_000300: 1.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.591e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.144178e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 3

East Asian
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allele count: 2
allele frequency: 3.068425897514575e-4
allele num: 6518
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47636
num of homozygotes: 0

Other
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allele count: 1
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South Asian
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allele count: 80
allele frequency: 8.29531314807134e-3
allele num: 9644
num of homozygotes: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
SIO_000300: 1.544e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.22822e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46394
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9282
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5672
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.05935e5

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

FS
type: SiteQuality
SIO_000300: 3.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46468
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

Other
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allele count: 2
allele frequency: 2.8328611898017e-3
allele num: 706
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South Asian
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African
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allele count: 240
allele frequency: 3.072196620583717e-2
allele num: 7812
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Latino
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allele frequency: 8.280104092737166e-4
allele num: 8454
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46060
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East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.04e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5594
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.708707902857909e-5
allele num: 44718
num of homozygotes: 0

African
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allele frequency: 2.772387025228722e-4
allele num: 7214
num of homozygotes: 0

Latino
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allele frequency: 1.219512195121951e-4
allele num: 8200
num of homozygotes: 0

South Asian
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allele frequency: 7.922136713444998e-4
allele num: 8836
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East Asian
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allele count: 185
allele frequency: 3.04476629361422e-2
allele num: 6076
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
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allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.064807837226828e-5
allele num: 42464
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Other
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allele num: 652
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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DP
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
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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 num: 626
num of homozygotes: 0

InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.56e-1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 7.030371203599551e-5
allele num: 14224
num of homozygotes: 0

African
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

East Asian
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num of homozygotes: 0

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

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

Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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num of homozygotes: 0

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

East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

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

South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele frequency: 4.550970873786408e-5
allele num: 65920
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Other
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East Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
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South Asian
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Other
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.938662225922843e-5
allele num: 14412
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African
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allele count: 95
allele frequency: 9.164576500096468e-3
allele num: 10366
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European (Non-Finnish)
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allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

East Asian
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Other
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Latino
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allele frequency: 2.596053997923157e-4
allele num: 11556
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.790710308298248e-5
allele num: 14726
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.513042425709617e-5
allele num: 66092
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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allele num: 6614
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East Asian
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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variant carriers: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 2.312138728323699e-4
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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South Asian
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African
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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European (Non-Finnish)
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allele frequency: 1.049916006719462e-4
allele num: 66672
num of homozygotes: 0

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

African
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allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.533e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.500105007350515e-5
allele num: 66662
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.938360147315371e-4
allele num: 10318
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10294
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele num: 906
num of homozygotes: 0

South Asian
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

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

ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504528631179851e-5
allele num: 66466
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South Asian
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

African
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South Asian
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.505298651252408e-5
allele num: 66432
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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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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allele frequency: 1.95160031225605e-4
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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allele frequency: 1.086767518692401e-2
allele num: 11502
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East Asian
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.964712e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.2306177701206e-4
allele num: 16252
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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allele frequency: 1.985308715505261e-4
allele num: 10074
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.827233e6

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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
allele num: 65246
num of homozygotes: 0

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

InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.5894e1

DP
type: SiteQuality
SIO_000300: 1.79163e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.228350325512836e-4
allele num: 65128
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9972
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 1.789986e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 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 frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.73973556019485e-5
allele num: 57480
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.105e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.340624e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.228201568905962e-5
allele num: 61954
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14310
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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QD
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MQ
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63716
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11278
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South Asian
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allele frequency: 6.602403274792024e-5
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num of homozygotes: 0

African
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.138928997426078e-5
allele num: 63716
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.548371113588505e-5
allele num: 64584
num of homozygotes: 0

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

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

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