9-139983360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983360
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983360
    reference: chr 9
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.418C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.368C>T
  hgvsp: ENSP00000360645.4:p.Pro123Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.383C>T
  hgvsp: ENSP00000444966.1:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.358C>T
  hgvsp: ENSP00000440616.1:p.Pro120Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.288C>T
  hgvsp: ENSP00000441398.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro123Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

9-139983366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983366
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983366
    reference: chr 9
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.424T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*279T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.389T>C
  hgvsp: ENSP00000444966.1:p.Ile130Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.294T>C
  hgvsp: ENSP00000441398.1:p.Ile99Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-39T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.374T>C
  hgvsp: ENSP00000360645.4:p.Ile125Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.364T>C
  hgvsp: ENSP00000440616.1:p.Ile122Thr
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile125Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-139983367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983367
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983367
    reference: chr 9
allele count: 7
allele frequency: 5.785889043179263e-5
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-38T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.375T>C
  hgvsp: ENST00000371589.4:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.390T>C
  hgvsp: ENST00000544448.1:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.425T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.295T>C
  hgvsp: ENST00000535144.1:c.295T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.365T>C
  hgvsp: ENST00000540346.1:c.365T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*280T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile125Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-139983372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983372
    reference: chr 9
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-33G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.380G>A
  hgvsp: ENSP00000360645.4:p.Gly127Glu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.395G>A
  hgvsp: ENSP00000444966.1:p.Gly132Glu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.430G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.300G>A
  hgvsp: ENSP00000441398.1:p.Gly101Glu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.370G>A
  hgvsp: ENSP00000440616.1:p.Gly124Glu
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly127Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

9-139983392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983392
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983392
    reference: chr 9
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.320C>T
  hgvsp: ENSP00000441398.1:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*305C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.390C>T
  hgvsp: ENSP00000440616.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.415C>T
  hgvsp: ENSP00000444966.1:p.Pro139Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.450C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.400C>T
  hgvsp: ENSP00000360645.4:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-13C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7134
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro134Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/9-139983394-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983394
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983394
    reference: chr 9
allele count: 4
allele frequency: 3.304965710980749e-5
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.402C>A
  hgvsp: ENST00000371589.4:c.402C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.452C>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.417C>A
  hgvsp: ENST00000544448.1:c.417C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.322C>A
  hgvsp: ENST00000535144.1:c.322C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-11C>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.392C>A
  hgvsp: ENST00000540346.1:c.392C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*307C>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro134Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

9-139983394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983394
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983394
    reference: chr 9
allele count: 4
allele frequency: 3.304965710980749e-5
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.417C>T
  hgvsp: ENST00000544448.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.452C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-11C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.402C>T
  hgvsp: ENST00000371589.4:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.392C>T
  hgvsp: ENST00000540346.1:c.392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.322C>T
  hgvsp: ENST00000535144.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro134Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-139983395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983395
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983395
    reference: chr 9
allele count: 64
allele frequency: 5.288119908118916e-4
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.403G>A
  hgvsp: ENSP00000360645.4:p.Val135Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.323G>A
  hgvsp: ENSP00000441398.1:p.Val109Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.393G>A
  hgvsp: ENSP00000440616.1:p.Val132Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.453G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.418G>A
  hgvsp: ENSP00000444966.1:p.Val140Ile
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val135Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-139983395-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983395
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983395
    reference: chr 9
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.323G>C
  hgvsp: ENSP00000441398.1:p.Val109Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*308G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.403G>C
  hgvsp: ENSP00000360645.4:p.Val135Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-10G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.453G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.393G>C
  hgvsp: ENSP00000440616.1:p.Val132Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.418G>C
  hgvsp: ENSP00000444966.1:p.Val140Leu
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7126
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val135Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-139983398-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983398
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983398
    reference: chr 9
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.406T>C
  hgvsp: ENST00000371589.4:c.406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.396T>C
  hgvsp: ENST00000540346.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.456T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.326T>C
  hgvsp: ENST00000535144.1:c.326T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.421T>C
  hgvsp: ENST00000544448.1:c.421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*311T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
hgvs: c.246-7T>C
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

9-139983401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983401
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983401
    reference: chr 9
allele count: 7
allele frequency: 5.78311660415393e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.399C>T
  hgvsp: ENSP00000440616.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.424C>T
  hgvsp: ENSP00000444966.1:p.Pro142Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.329C>T
  hgvsp: ENSP00000441398.1:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*314C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.459C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.246-4C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.409C>T
  hgvsp: ENSP00000360645.4:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro137Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-139983410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983410
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983410
    reference: chr 9
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.338C>T
  hgvsp: ENSP00000441398.1:p.Gln114Ter
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.433C>T
  hgvsp: ENSP00000444966.1:p.Gln145Ter
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.418C>T
  hgvsp: ENSP00000360645.4:p.Gln140Ter
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.251C>T
  hgvsp: ENSP00000444189.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.408C>T
  hgvsp: ENSP00000440616.1:p.Gln137Ter
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*323C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.468C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln140Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-139983411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983411
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983411
    reference: chr 9
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.252A>G
  hgvsp: ENSP00000444189.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*324A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.419A>G
  hgvsp: ENSP00000360645.4:p.Gln140Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.434A>G
  hgvsp: ENSP00000444966.1:p.Gln145Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.339A>G
  hgvsp: ENSP00000441398.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.409A>G
  hgvsp: ENSP00000440616.1:p.Gln137Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.469A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln140Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-139983417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983417
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983417
    reference: chr 9
allele count: 3
allele frequency: 2.478396642598681e-5
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.258C>T
  hgvsp: ENSP00000444189.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.425C>T
  hgvsp: ENSP00000360645.4:p.Ala142Val
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*330C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.475C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.345C>T
  hgvsp: ENSP00000441398.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.440C>T
  hgvsp: ENSP00000444966.1:p.Ala147Val
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.415C>T
  hgvsp: ENSP00000440616.1:p.Ala139Val
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34538
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala142Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-139983418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983418
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983418
    reference: chr 9
allele count: 8
allele frequency: 6.608948516291058e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.476G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.259G>A
  hgvsp: ENST00000542372.1:c.259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.346G>A
  hgvsp: ENST00000535144.1:c.346G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.416G>A
  hgvsp: ENST00000540346.1:c.416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.441G>A
  hgvsp: ENST00000544448.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.426G>A
  hgvsp: ENST00000371589.4:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34539
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala142Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-139983422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983422
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983422
    reference: chr 9
allele count: 2
allele frequency: 1.65218253312626e-5
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.430A>G
  hgvsp: ENSP00000360645.4:p.Thr144Ala
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*335A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.480A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.445A>G
  hgvsp: ENSP00000444966.1:p.Thr149Ala
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.420A>G
  hgvsp: ENSP00000440616.1:p.Thr141Ala
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.350A>G
  hgvsp: ENSP00000441398.1:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.263A>G
  hgvsp: ENSP00000444189.1:p.Thr89Ala
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr144Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-139983423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983423
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983423
    reference: chr 9
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.264C>T
  hgvsp: ENSP00000444189.1:p.Thr89Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.431C>T
  hgvsp: ENSP00000360645.4:p.Thr144Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.421C>T
  hgvsp: ENSP00000440616.1:p.Thr141Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.351C>T
  hgvsp: ENSP00000441398.1:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.446C>T
  hgvsp: ENSP00000444966.1:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.481C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr144Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

9-139983424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983424
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983424
    reference: chr 9
allele count: 6
allele frequency: 4.95687518588282e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.352C>T
  hgvsp: ENST00000535144.1:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.432C>T
  hgvsp: ENST00000371589.4:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.265C>T
  hgvsp: ENST00000542372.1:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.422C>T
  hgvsp: ENST00000540346.1:c.422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.447C>T
  hgvsp: ENST00000544448.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*337C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.482C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr144Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-139983425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983425
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983425
    reference: chr 9
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.433G>A
  hgvsp: ENSP00000360645.4:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.266G>A
  hgvsp: ENSP00000444189.1:p.Asp90Asn
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.448G>A
  hgvsp: ENSP00000444966.1:p.Asp150Asn
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.353G>A
  hgvsp: ENSP00000441398.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.483G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.423G>A
  hgvsp: ENSP00000440616.1:p.Asp142Asn
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp145Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

9-139983431-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983431
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983431
    reference: chr 9
allele count: 7
allele frequency: 5.782161206654441e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*344G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.359G>C
  hgvsp: ENSP00000441398.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.272G>C
  hgvsp: ENSP00000444189.1:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.454G>C
  hgvsp: ENSP00000444966.1:p.Glu152Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.439G>C
  hgvsp: ENSP00000360645.4:p.Glu147Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.489G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.429G>C
  hgvsp: ENSP00000440616.1:p.Glu144Gln
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu147Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-139983440-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983440
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983440
    reference: chr 9
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.368C>A
  hgvsp: ENSP00000441398.1:p.Pro124Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.448C>A
  hgvsp: ENSP00000360645.4:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.281C>A
  hgvsp: ENSP00000444189.1:p.Pro95Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.463C>A
  hgvsp: ENSP00000444966.1:p.Pro155Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.438C>A
  hgvsp: ENSP00000440616.1:p.Pro147Thr
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*353C>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.498C>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro150Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

9-139983441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983441
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983441
    reference: chr 9
allele count: 7
allele frequency: 5.781874648957611e-5
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.449C>G
  hgvsp: ENSP00000360645.4:p.Pro150Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.499C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*354C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.282C>G
  hgvsp: ENSP00000444189.1:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.369C>G
  hgvsp: ENSP00000441398.1:p.Pro124Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.464C>G
  hgvsp: ENSP00000444966.1:p.Pro155Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.439C>G
  hgvsp: ENSP00000440616.1:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 34554
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro150Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

9-139983445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983445
    reference: chr 9
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.443G>A
  hgvsp: ENST00000540346.1:c.443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.503G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.373G>A
  hgvsp: ENST00000535144.1:c.373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*358G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.468G>A
  hgvsp: ENST00000544448.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.453G>A
  hgvsp: ENST00000371589.4:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.286G>A
  hgvsp: ENST00000542372.1:c.286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu151Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

9-139983445-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983445
    reference: chr 9
allele count: 3
allele frequency: 2.477987213585978e-5
allele num: 121066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.468G>C
  hgvsp: ENSP00000444966.1:p.Glu156Asp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.503G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.453G>C
  hgvsp: ENSP00000360645.4:p.Glu151Asp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.443G>C
  hgvsp: ENSP00000440616.1:p.Glu148Asp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.373G>C
  hgvsp: ENSP00000441398.1:p.Glu125Asp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*358G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.286G>C
  hgvsp: ENSP00000444189.1:p.Glu96Asp
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34556
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu151Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

9-139983450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983450
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983450
    reference: chr 9
allele count: 4
allele frequency: 3.304092118088253e-5
allele num: 121062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.473C>T
  hgvsp: ENSP00000444966.1:p.Ser158Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*363C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.508C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.378C>T
  hgvsp: ENSP00000441398.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.291C>T
  hgvsp: ENSP00000444189.1:p.Ser98Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.448C>T
  hgvsp: ENSP00000440616.1:p.Ser150Leu
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.458C>T
  hgvsp: ENSP00000360645.4:p.Ser153Leu
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser153Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-139983451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983451
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983451
    reference: chr 9
allele count: 177
allele frequency: 1.462012456015727e-3
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.474G>A
  hgvsp: ENST00000544448.1:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.379G>A
  hgvsp: ENST00000535144.1:c.379G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.292G>A
  hgvsp: ENST00000542372.1:c.292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.449G>A
  hgvsp: ENST00000540346.1:c.449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.509G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*364G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.459G>A
  hgvsp: ENST00000371589.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser153Ser
num of homozygotes: 1
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/9-139983456-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983456
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983456
    reference: chr 9
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.479A>C
  hgvsp: ENSP00000444966.1:p.Gln160Pro
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.297A>C
  hgvsp: ENSP00000444189.1:p.Gln100Pro
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.464A>C
  hgvsp: ENSP00000360645.4:p.Gln155Pro
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.514A>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.384A>C
  hgvsp: ENSP00000441398.1:p.Gln129Pro
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.454A>C
  hgvsp: ENSP00000440616.1:p.Gln152Pro
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*369A>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln155Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

9-139983462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983462
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983462
    reference: chr 9
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+5T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+5T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: c.465+5T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-139983464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983464
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983464
    reference: chr 9
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+7T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+7T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: c.465+7T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

9-139983467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983467
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983467
    reference: chr 9
allele count: 5
allele frequency: 4.130661070997802e-5
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+10G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+10G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-139983468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983468
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983468
    reference: chr 9
allele count: 5
allele frequency: 4.13045633281565e-5
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+11C>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+11C>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34620
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-139983473-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983473
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983473
    reference: chr 9
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+16G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+16G>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-139983476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983476
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983476
    reference: chr 9
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+19G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+19G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

9-139983480-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983480
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983480
    reference: chr 9
allele count: 631
allele frequency: 5.213066538887329e-3
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+23G>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+23G>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 7
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

9-139983481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983481
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983481
    reference: chr 9
allele count: 3
allele frequency: 2.478478544637399e-5
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+24G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+24G>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34611
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

9-139983484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983484
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983484
    reference: chr 9
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+27A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+27A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

9-139983485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983485
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983485
    reference: chr 9
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+28T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+28T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-139983486-A-AGAGTAAGTCAGCTGGTGGGCTTGAACACTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983486
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983516
    reference: chr 9
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: AGAGTAAGTCAGCTGGTGGGCTTGAACACTC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139983487-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983487
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983487
    reference: chr 9
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+30A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+30A>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-139983488-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983488
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983486
    reference: chr 9
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+32_515+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+32_455+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+32_465+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+32_*370+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+32_385+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+32_480+33delTG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+32_298+33delTG
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: CTG
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-139983492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983492
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983492
    reference: chr 9
allele count: 11
allele frequency: 9.089857371874329e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+35G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+35G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

9-139983498-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983498
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983498
    reference: chr 9
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+41A>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+41A>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139983505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983505
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983505
    reference: chr 9
allele count: 13
allele frequency: 1.074593307763523e-4
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+48G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+48G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34620
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

9-139983506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983506
    reference: chr 9
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+49G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

9-139983507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139983507
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139983507
    reference: chr 9
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.385+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.515+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*370+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.298+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.465+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.480+50C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.455+50C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-139990639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990639
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990639
    reference: chr 9
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-50G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-50G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

9-139990640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990640
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990640
    reference: chr 9
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-49G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-49G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-139990644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990644
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990644
    reference: chr 9
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-45C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-45C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7194
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34219
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-139990653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990653
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990653
    reference: chr 9
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-36A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-36A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

9-139990654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990654
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990654
    reference: chr 9
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-35C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-35C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

9-139990657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990657
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990657
    reference: chr 9
allele count: 3
allele frequency: 2.484595507851322e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-32C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-32C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7169
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139990658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990658
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990658
    reference: chr 9
allele count: 38
allele frequency: 3.146685215547937e-4
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-31G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-31G>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25721
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

9-139990658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990658
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990658
    reference: chr 9
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-31G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-31G>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

9-139990668-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990668
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990668
    reference: chr 9
allele count: 21
allele frequency: 1.737633839177851e-4
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-21G>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-21G>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-139990669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990669
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990669
    reference: chr 9
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-20T>C
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-20T>C
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

9-139990673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990673
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990673
    reference: chr 9
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-16A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-16A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

9-139990675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990675
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990675
    reference: chr 9
allele count: 16
allele frequency: 1.323626737260093e-4
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-14C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-14C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

9-139990677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990677
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990677
    reference: chr 9
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-12A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-12A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

9-139990685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990685
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990685
    reference: chr 9
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.456-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.386-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.516-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.466-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.299-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.481-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-426-4A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*371-4A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 9.75e1
  variant carriers: 1
hgvs: c.466-4A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

9-139990694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990694
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990694
    reference: chr 9
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.521A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.304A>G
  hgvsp: ENST00000542372.1:c.304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.461A>G
  hgvsp: ENST00000540346.1:c.461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*376A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.471A>G
  hgvsp: ENST00000371589.4:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.391A>G
  hgvsp: ENST00000535144.1:c.391A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.486A>G
  hgvsp: ENST00000544448.1:c.486A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-421A>G
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr157Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

9-139990710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990710
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990710
    reference: chr 9
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-405C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.320C>T
  hgvsp: ENSP00000444189.1:p.Arg108Trp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.502C>T
  hgvsp: ENSP00000444966.1:p.Arg168Trp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*392C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.477C>T
  hgvsp: ENSP00000440616.1:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.487C>T
  hgvsp: ENSP00000360645.4:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.407C>T
  hgvsp: ENSP00000441398.1:p.Arg137Trp
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.537C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg163Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-139990711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990711
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990711
    reference: chr 9
allele count: 2
allele frequency: 1.65218253312626e-5
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.408G>A
  hgvsp: ENSP00000441398.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.503G>A
  hgvsp: ENSP00000444966.1:p.Arg168Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.488G>A
  hgvsp: ENSP00000360645.4:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.538G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*393G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.321G>A
  hgvsp: ENSP00000444189.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-404G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.478G>A
  hgvsp: ENSP00000440616.1:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg163Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

9-139990713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990713
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990713
    reference: chr 9
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.540G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-402G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.490G>A
  hgvsp: ENSP00000360645.4:p.Gly164Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.505G>A
  hgvsp: ENSP00000444966.1:p.Gly169Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.410G>A
  hgvsp: ENSP00000441398.1:p.Gly138Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.480G>A
  hgvsp: ENSP00000440616.1:p.Gly161Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.323G>A
  hgvsp: ENSP00000444189.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly164Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/9-139990717-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990717
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990717
    reference: chr 9
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440314
  ensembl transcript: ENST00000545539
  gene symbol: MAN1B1
  hgvsc: ENST00000545539.1:c.*399C>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.509C>A
  hgvsp: ENSP00000444966.1:p.Pro170Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-398C>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.494C>A
  hgvsp: ENSP00000360645.4:p.Pro165Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.414C>A
  hgvsp: ENSP00000441398.1:p.Pro139Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.327C>A
  hgvsp: ENSP00000444189.1:p.Pro110Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.484C>A
  hgvsp: ENSP00000440616.1:p.Pro162Gln
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.544C>A
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7598
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro165Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-139990736-ACCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990736
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990733
    reference: chr 9
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.506_508delCCC
  hgvsp: ENSP00000440616.1:p.Pro170del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.436_438delCCC
  hgvsp: ENSP00000441398.1:p.Pro147del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.566_568delCCC
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.516_518delCCC
  hgvsp: ENSP00000360645.4:p.Pro173del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-376_-374delCCC
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.349_351delCCC
  hgvsp: ENSP00000444189.1:p.Pro118del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.531_533delCCC
  hgvsp: ENSP00000444966.1:p.Pro178del
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro173del
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: ACCC
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-139990737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990737
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990737
    reference: chr 9
allele count: 16
allele frequency: 1.32224848354627e-4
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.514C>T
  hgvsp: ENSP00000360645.4:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.434C>T
  hgvsp: ENSP00000441398.1:p.Pro146Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.564C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-378C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.504C>T
  hgvsp: ENSP00000440616.1:p.Pro169Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.529C>T
  hgvsp: ENSP00000444966.1:p.Pro177Ser
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.347C>T
  hgvsp: ENSP00000444189.1:p.Pro117Ser
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro172Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

9-139990748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990748
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990748
    reference: chr 9
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-367A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.445A>G
  hgvsp: ENST00000535144.1:c.445A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.525A>G
  hgvsp: ENST00000371589.4:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.575A>G
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.358A>G
  hgvsp: ENST00000542372.1:c.358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.540A>G
  hgvsp: ENST00000544448.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.515A>G
  hgvsp: ENST00000540346.1:c.515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln175Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

9-139990751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990751
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990751
    reference: chr 9
allele count: 4
allele frequency: 3.308026927339188e-5
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.528C>T
  hgvsp: ENST00000371589.4:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.361C>T
  hgvsp: ENST00000542372.1:c.361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.518C>T
  hgvsp: ENST00000540346.1:c.518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.543C>T
  hgvsp: ENST00000544448.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-364C>T
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.448C>T
  hgvsp: ENST00000535144.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.578C>T
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp176Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

9-139990754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990754
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990754
    reference: chr 9
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.581G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.451G>A
  hgvsp: ENST00000535144.1:c.451G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.546G>A
  hgvsp: ENST00000544448.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.531G>A
  hgvsp: ENST00000371589.4:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.364G>A
  hgvsp: ENST00000542372.1:c.364G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-361G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.521G>A
  hgvsp: ENST00000540346.1:c.521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu177Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

9-139990761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990761
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990761
    reference: chr 9
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-354G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.528G>A
  hgvsp: ENSP00000440616.1:p.Gly177Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.538G>A
  hgvsp: ENSP00000360645.4:p.Gly180Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.371G>A
  hgvsp: ENSP00000444189.1:p.Gly125Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.588G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.553G>A
  hgvsp: ENSP00000444966.1:p.Gly185Arg
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.458G>A
  hgvsp: ENSP00000441398.1:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly180Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-139990767-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990767
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990764
    reference: chr 9
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-341_-339delAGG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.541_543delAGG
  hgvsp: ENSP00000440616.1:p.Glu181del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177239
  ensembl transcript: ENST00000371587
  gene symbol: MAN1B1
  hgvsc: ENST00000371587.4:n.601_603delAGG
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.471_473delAGG
  hgvsp: ENSP00000441398.1:p.Glu158del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444966
  ensembl transcript: ENST00000544448
  gene symbol: MAN1B1
  hgvsc: ENST00000544448.1:c.566_568delAGG
  hgvsp: ENSP00000444966.1:p.Glu189del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.551_553delAGG
  hgvsp: ENSP00000360645.4:p.Glu184del
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.384_386delAGG
  hgvsp: ENSP00000444189.1:p.Glu129del
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu184del
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: CAGG
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139990772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139990772
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139990772
    reference: chr 9
allele count: 3
allele frequency: 2.486654951758894e-5
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000444189
  ensembl transcript: ENST00000542372
  gene symbol: MAN1B1
  hgvsc: ENST00000542372.1:c.382G>A
  hgvsp: ENST00000542372.1:c.382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000440616
  ensembl transcript: ENST00000540346
  gene symbol: MAN1B1
  hgvsc: ENST00000540346.1:c.539G>A
  hgvsp: ENST00000540346.1:c.539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000360645
  ensembl transcript: ENST00000371589
  gene symbol: MAN1B1
  hgvsc: ENST00000371589.4:c.549G>A
  hgvsp: ENST00000371589.4:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000447256
  ensembl transcript: ENST00000474902
  gene symbol: MAN1B1
  hgvsc: ENST00000474902.1:c.-343G>A
  variant of: http://identifiers.org/hgnc/6823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177239
  ensembl protein: ENSP00000441398
  ensembl transcript: ENST00000535144
  gene symbol: MAN1B1
  hgvsc: ENST00000535144.1:c.469G>A
  hgvsp: ENST00000535144.1:c.469G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6823
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Glu183Glu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.808e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.008e0

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 1.616e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 2.635313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 6.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 2.635631e6

QD
type: SiteQuality
SIO_000300: 1.554e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e0

GenotypeQuality
all individuals: 3725
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34502
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053138352289824e-4
allele num: 66468
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

DP
type: SiteQuality
SIO_000300: 2.636322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 3731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7133
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34500
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.608e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.067e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 2.636394e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34501
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.637126e6

QD
type: SiteQuality
SIO_000300: 1.081e1

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34506
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014314067480604e-5
allele num: 66508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 2.637919e6

FS
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34506
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.903600464576074e-4
allele num: 10332
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.637919e6

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

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

GenotypeQuality
all individuals: 3730
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34541
bin: 9.75e1
variant carriers: 64

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.653986106516705e-4
allele num: 66506
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 4.841208365608056e-3
allele num: 10328
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.64587e6

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34541
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 2.64587e6

GenotypeQuality
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variant carriers: 0

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

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

African
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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: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.948e1

QD
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ClippingRankSum
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SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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
allele num: 11546
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European (Non-Finnish)
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allele frequency: 1.052378375127789e-4
allele num: 66516
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.45e0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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Other
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 2.641424e6

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

Latino
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

Other
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num of homozygotes: 0

African
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QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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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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

East Asian
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allele frequency: 9.254974548819991e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

Latino
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66528
num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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Latino
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African
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East Asian
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QD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-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 (Finnish)
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
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

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.042e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
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SIO_000300: 2.643027e6

FS
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052125293092046e-4
allele num: 66532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 2.644658e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1960
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.934610176049526e-4
allele num: 10338
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.122e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.644387e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.802707930367504e-4
allele num: 10340
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 2.644897e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.174e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.644638e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.46e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 1.837e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.598752598752599e-4
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.46e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 2.644638e6

FS
type: SiteQuality
SIO_000300: 1.837e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 1.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006253006253006e-5
allele num: 66528
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.645117e6

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
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SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 176

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 165
allele frequency: 1.595127610208817e-2
allele num: 10344
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Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.012325266796934e-5
allele num: 66530
num of homozygotes: 0

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

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.663933e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66530
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European (Finnish)
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East Asian
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African
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Other
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Latino
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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South Asian
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allele num: 16484
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 2.65065e6

QD
type: SiteQuality
SIO_000300: 1.091e1

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34617
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.650725e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.121e0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 76
bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 3710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.515858461353456e-5
allele num: 66526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.071e0

DP
type: SiteQuality
SIO_000300: 2.651173e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 5.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3324
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.032876379958753e-4
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 2.650971e6

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

FS
type: SiteQuality
SIO_000300: 6.396e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.527e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
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variant carriers: 0

GenotypeQuality
all individuals: 7059
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.511e0

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

FS
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 2.650738e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

GenotypeQuality
all individuals: 3709
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34620
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: -6.289e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.771e0

QD
type: SiteQuality
SIO_000300: 1.481e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.650567e6

GenotypeQuality
all individuals: 3454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34667
bin: 9.75e1
variant carriers: 623

GenotypeQuality
all individuals: 3309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 13
allele frequency: 1.126516464471404e-3
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 159
allele frequency: 2.403991533111581e-2
allele num: 6614
num of homozygotes: 2

East Asian
type: Population
allele count: 47
allele frequency: 5.438555889840315e-3
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 253
allele frequency: 2.44917715392062e-2
allele num: 10330
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 126
allele frequency: 1.893996332261071e-3
allele num: 66526
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.759281727735986e-3
allele num: 16484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

FS
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

DP
type: SiteQuality
SIO_000300: 2.665377e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

GenotypeQuality
all individuals: 3456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
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variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6952
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819946614899296e-4
allele num: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.636829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.589e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

QD
type: SiteQuality
SIO_000300: 1.414e1

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

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

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

GenotypeQuality
all individuals: 34610
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.869e0

DP
type: SiteQuality
SIO_000300: 2.636474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 6863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.039e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e0

QD
type: SiteQuality
SIO_000300: 1.669e1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 2.636287e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 3312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

QD
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VQSLOD
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MQRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 4.679e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: -9.389999999999999e-1

DP
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GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66520
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East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

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

ClippingRankSum
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SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

DP
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MQ
type: SiteQuality
SIO_000300: 6.213e1

VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

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

East Asian
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allele count: 10
allele frequency: 1.157407407407407e-3
allele num: 8640
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.636562e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.635729e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
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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

European (Non-Finnish)
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allele count: 12
allele frequency: 1.804348479836406e-4
allele num: 66506
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

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
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SIO_000300: 0.0e0

MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 906
num of homozygotes: 0

African
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allele num: 10274
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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

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

European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

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

South Asian
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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 num: 66188
num of homozygotes: 0

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

Other
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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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num of homozygotes: 0

East Asian
type: Population
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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

South Asian
type: Population
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African
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allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -3.548e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
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SIO_000300: 1.991382e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: 5.23e-1

VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.001326e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.394e1

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

African
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allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.293e1

FS
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019961948479449e-5
allele num: 66226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 2.005819e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.204e1

FS
type: SiteQuality
SIO_000300: 5.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 12
allele frequency: 7.274490785645005e-4
allele num: 16496
num of homozygotes: 0

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

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

African
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allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.472641623384467e-4
allele num: 66232
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.007086e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.443e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 2.007086e6

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 1.443e0

BaseQRankSum
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SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele frequency: 2.314279102059709e-3
allele num: 8642
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South Asian
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Latino
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allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
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VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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East Asian
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allele frequency: 2.314279102059708e-4
allele num: 8642
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South Asian
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QD
type: SiteQuality
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DP
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 16
allele frequency: 1.851423281647767e-3
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.15e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 4.731e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.016017e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
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QD
type: SiteQuality
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DP
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SIO_000300: 2.015983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 4.71e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 2.017461e6

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.859e-1

QD
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SIO_000300: 9.73e0

FS
type: SiteQuality
SIO_000300: 1.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.019206e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.128e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.72e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.021268e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.219e0

InbreedingCoeff
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ClippingRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.021557e6

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

Latino
type: Population
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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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
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allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

Latino
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African
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Other
type: Population
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South Asian
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QD
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DP
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.211827435773146e-4
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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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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 39210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.655828516377649e-4
allele num: 66432
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 4.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 2.021683e6

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 9.15e0

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

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.25e1
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GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.3035e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.85e0

DP
type: SiteQuality
SIO_000300: 2.020824e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39172
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7136
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.020362e6

QD
type: SiteQuality
SIO_000300: 9.69e0

FS
type: SiteQuality
SIO_000300: 9.455e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1110
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

DP
type: SiteQuality
SIO_000300: 2.019828e6

FS
type: SiteQuality
SIO_000300: 9.991e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: -1.586e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

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

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 6.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

DP
type: SiteQuality
SIO_000300: 2.018335e6

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: -6.343e-1

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

GenotypeQuality
all individuals: 2152
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.016533e6

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.328e0

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1