12-110009466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009466
    reference: chr 12
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.184A>G
  hgvsp: ENSP00000474881.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.184A>G
  hgvsp: ENSP00000416136.2:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1686A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.187A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.184A>G
  hgvsp: ENSP00000445920.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.284A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.184A>G
  hgvsp: ENSP00000444793.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.184A>G
  hgvsp: ENSP00000474981.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.211A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-247A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1686A>G
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr62Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-110009468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009468
    reference: chr 12
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1684A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.182A>G
  hgvsp: ENSP00000474981.1:p.Lys61Arg
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.185A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.182A>G
  hgvsp: ENSP00000445920.1:p.Lys61Arg
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.182A>G
  hgvsp: ENSP00000444793.1:p.Lys61Arg
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-249A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.282A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.182A>G
  hgvsp: ENSP00000416136.2:p.Lys61Arg
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.182A>G
  hgvsp: ENSP00000474881.1:p.Lys61Arg
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1684A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.209A>G
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys61Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

12-110009482-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009482
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.168C>G
  hgvsp: ENST00000420167.2:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1670C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.168C>G
  hgvsp: ENST00000503497.3:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.168C>G
  hgvsp: ENST00000541763.2:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-263C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1670C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.195C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.168C>G
  hgvsp: ENST00000537496.1:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.171C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.168C>G
  hgvsp: ENST00000545712.2:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.268C>G
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

12-110009492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009492
    reference: chr 12
allele count: 3
allele frequency: 2.475860361475613e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-273C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.158C>T
  hgvsp: ENSP00000445920.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1660C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.258C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.158C>T
  hgvsp: ENSP00000444793.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.185C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.161C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.158C>T
  hgvsp: ENSP00000474881.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1660C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.158C>T
  hgvsp: ENSP00000416136.2:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.158C>T
  hgvsp: ENSP00000474981.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro53Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-110009500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009500
    reference: chr 12
allele count: 3
allele frequency: 2.476596166229135e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1652G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.177G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.150G>A
  hgvsp: ENST00000420167.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.153G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.150G>A
  hgvsp: ENST00000503497.3:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-281G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.150G>A
  hgvsp: ENST00000545712.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.150G>A
  hgvsp: ENST00000541763.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.250G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1652G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.150G>A
  hgvsp: ENST00000537496.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-110009501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009501
    reference: chr 12
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.149C>T
  hgvsp: ENSP00000416136.2:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-282C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1651C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.149C>T
  hgvsp: ENSP00000445920.1:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.176C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1651C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.149C>T
  hgvsp: ENSP00000444793.1:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.152C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.149C>T
  hgvsp: ENSP00000474881.1:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.149C>T
  hgvsp: ENSP00000474981.1:p.Ser50Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.249C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-110009516-CTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009513
    reference: chr 12
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-4_138-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-4_135-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-4_-296-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-4_235-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-4_162-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1633_134+1635delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-4_135-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-4_135-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-4_135-2delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1633_134+1635delTTA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-4_135-2delTTA
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.135-4_135-2delTTA
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: CTAA
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-110009527-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009527
    reference: chr 12
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1625A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1625A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-12A>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-12A>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-110009532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009532
    reference: chr 12
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1620T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1620T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-17T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-17T>C
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-110009534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009534
    reference: chr 12
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1618G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-19G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1618G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-19G>A
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-110009538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009538
    reference: chr 12
allele count: 5746
allele frequency: 4.766486934881792e-2
allele num: 120550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1614T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1614T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-23T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-23T>C
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 2.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 4.25e1
  variant carriers: 675
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 16536
  bin: 2.75e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 9.75e1
  variant carriers: 748
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.75e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 3.25e1
  variant carriers: 781
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
num of homozygotes: 203
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

12-110009547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009547
    reference: chr 12
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1605C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1605C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-32C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-32C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-110009548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009548
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009548
    reference: chr 12
allele count: 4
allele frequency: 3.328617791462096e-5
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1604A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1604A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-33A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-33A>G
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15460
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-110009549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009549
    reference: chr 12
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1603C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1603C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-34C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-34C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-110009552-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110009552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110009553
    reference: chr 12
allele count: 919
allele frequency: 7.646481287337959e-3
allele num: 120186
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.162-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.135-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.135-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.138-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.135-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+1599dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.135-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.235-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+1599dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-296-38dupT
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.135-38dupT
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 9.75e1
  variant carriers: 141
genotype quality: GenotypeQuality
num of homozygotes: 28
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-110011103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011103
    reference: chr 12
allele count: 1
allele frequency: 8.615936035290874e-6
allele num: 116064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+49G>A
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-110011104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011104
    reference: chr 12
allele count: 1
allele frequency: 8.625150940141453e-6
allele num: 115940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-278C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+48G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+48G>A
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

12-110011107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011107
    reference: chr 12
allele count: 9
allele frequency: 7.763573314010662e-5
allele num: 115926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-284G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-275G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+45C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+45C>G
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-110011114-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011114
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011114
    reference: chr 12
allele count: 2
allele frequency: 1.777588168373151e-5
allele num: 112512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-268G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-277G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+38C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+38C>A
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19959
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-110011117-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011117
    reference: chr 12
allele count: 1
allele frequency: 8.85065406333528e-6
allele num: 112986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-274A>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-265A>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+35T>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+35T>G
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20083
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-110011119-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011120
    reference: chr 12
allele count: 2
allele frequency: 1.764259628446922e-5
allele num: 113362
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-262dupT
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-271dupT
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+32dupA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+32dupA
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-110011119-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011119
    reference: chr 12
allele count: 1
allele frequency: 8.821298142234612e-6
allele num: 113362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-272G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-263G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+33C>G
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-110011120-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011120
    reference: chr 12
allele count: 1220
allele frequency: 1.20109476834623e-2
allele num: 101574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-271T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-262T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+32A>C
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 1.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-110011122-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011122
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011122
    reference: chr 12
allele count: 3
allele frequency: 2.700367249945993e-5
allele num: 111096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-260T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-269T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+30A>C
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20731
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-110011124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011124
    reference: chr 12
allele count: 2
allele frequency: 1.80060140086789e-5
allele num: 111074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-267C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-258C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+28G>A
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-110011125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011125
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 111236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-257G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-266G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+27C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+27C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-110011126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011126
    reference: chr 12
allele count: 3
allele frequency: 2.698715411464143e-5
allele num: 111164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-256A>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-265A>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+26T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+26T>A
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-110011128-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011128
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011128
    reference: chr 12
allele count: 1
allele frequency: 8.984403076259613e-6
allele num: 111304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-263T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-254T>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+24A>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+24A>C
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-110011129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011129
    reference: chr 12
allele count: 1
allele frequency: 8.981982143819498e-6
allele num: 111334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-262T>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-253T>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+23A>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+23A>G
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-110011130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011130
    reference: chr 12
allele count: 2
allele frequency: 1.802158986465786e-5
allele num: 110978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-252G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-261G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+22C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-110011139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011139
    reference: chr 12
allele count: 4
allele frequency: 3.602629919841484e-5
allele num: 111030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-252G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-243G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+13C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+13C>G
  variant of: http://identifiers.org/hgnc/19331
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-110011147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011147
    reference: chr 12
allele count: 2
allele frequency: 1.73469564764862e-5
allele num: 115294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-244C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.2C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134+5G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-235C>A
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.134+5G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-110011152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011152
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011152
    reference: chr 12
allele count: 2
allele frequency: 1.737981855469429e-5
allele num: 115076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.134G>C
  hgvsp: ENSP00000474881.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.134G>C
  hgvsp: ENSP00000438079.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.134G>C
  hgvsp: ENSP00000444793.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.134G>C
  hgvsp: ENSP00000474981.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.134G>C
  hgvsp: ENSP00000445920.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-297G>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.7C>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-230C>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.134G>C
  hgvsp: ENSP00000474582.1:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.134G>C
  hgvsp: ENSP00000416136.2:p.Arg45Thr
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.234G>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-239C>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.161G>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.137G>C
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg45Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-110011154-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011154
    reference: chr 12
allele count: 1
allele frequency: 8.690362388111584e-6
allele num: 115070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.159C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-299C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.132C>A
  hgvsp: ENSP00000445920.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.132C>A
  hgvsp: ENSP00000438079.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.132C>A
  hgvsp: ENSP00000474981.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.132C>A
  hgvsp: ENSP00000444793.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.132C>A
  hgvsp: ENSP00000474582.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.9G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.135C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.132C>A
  hgvsp: ENSP00000416136.2:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.232C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-237G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.132C>A
  hgvsp: ENSP00000474881.1:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-228G>T
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp44Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-110011176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011176
    reference: chr 12
allele count: 1
allele frequency: 8.855513442669405e-6
allele num: 112924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.110C>T
  hgvsp: ENSP00000445920.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.210C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.31G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-206G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.110C>T
  hgvsp: ENSP00000474582.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-215G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.110C>T
  hgvsp: ENSP00000474981.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-321C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.110C>T
  hgvsp: ENSP00000444793.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.110C>T
  hgvsp: ENSP00000438079.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.110C>T
  hgvsp: ENSP00000474881.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.110C>T
  hgvsp: ENSP00000416136.2:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.137C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.113C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro37Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-110011184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011184
    reference: chr 12
allele count: 1
allele frequency: 8.962500896250089e-6
allele num: 111576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.102C>T
  hgvsp: ENST00000541763.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.102C>T
  hgvsp: ENST00000545712.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-207G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.129C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.102C>T
  hgvsp: ENST00000540016.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.102C>T
  hgvsp: ENST00000544051.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-329C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.102C>T
  hgvsp: ENST00000420167.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.202C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.102C>T
  hgvsp: ENST00000537496.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.102C>T
  hgvsp: ENST00000503497.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.105C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-198G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.39G>A
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19864
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser34Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

12-110011187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011187
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011187
    reference: chr 12
allele count: 2
allele frequency: 1.802223944347325e-5
allele num: 110974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.99G>A
  hgvsp: ENST00000503497.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.99G>A
  hgvsp: ENST00000541763.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.99G>A
  hgvsp: ENST00000537496.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.199G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-332G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-195C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.99G>A
  hgvsp: ENST00000545712.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.99G>A
  hgvsp: ENST00000420167.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.42C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.99G>A
  hgvsp: ENST00000540016.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.102G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.99G>A
  hgvsp: ENST00000544051.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.126G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-204C>T
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln33Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-110011195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011195
    reference: chr 12
allele count: 11
allele frequency: 1.008304764698334e-4
allele num: 109094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.91C>T
  hgvsp: ENSP00000474881.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-187G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.91C>T
  hgvsp: ENSP00000438079.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.91C>T
  hgvsp: ENSP00000474582.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.91C>T
  hgvsp: ENSP00000474981.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.50G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.91C>T
  hgvsp: ENSP00000444793.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.91C>T
  hgvsp: ENSP00000445920.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-340C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.118C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.94C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.91C>T
  hgvsp: ENSP00000416136.2:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-196G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.191C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg31Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-110011198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011198
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011198
    reference: chr 12
allele count: 7
allele frequency: 6.450305007279629e-5
allele num: 108522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-184G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.88C>T
  hgvsp: ENSP00000444793.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.88C>T
  hgvsp: ENSP00000474582.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.91C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.88C>T
  hgvsp: ENSP00000474881.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.115C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.88C>T
  hgvsp: ENSP00000416136.2:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.88C>T
  hgvsp: ENSP00000438079.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.88C>T
  hgvsp: ENSP00000474981.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.53G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-343C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.188C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.88C>T
  hgvsp: ENSP00000445920.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro30Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-110011202-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011202
    reference: chr 12
allele count: 1
allele frequency: 9.35698779848791e-6
allele num: 106872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.111G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.87G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.84G>T
  hgvsp: ENST00000503497.3:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.84G>T
  hgvsp: ENST00000420167.2:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-347G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.84G>T
  hgvsp: ENST00000540016.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.84G>T
  hgvsp: ENST00000541763.2:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.184G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-189C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.84G>T
  hgvsp: ENST00000544051.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.57C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.84G>T
  hgvsp: ENST00000537496.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-180C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.84G>T
  hgvsp: ENST00000545712.2:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu28Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

12-110011207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011207
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011207
    reference: chr 12
allele count: 2
allele frequency: 1.923668821175746e-5
allele num: 103968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-184G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.82C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.79C>T
  hgvsp: ENSP00000474881.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.79C>T
  hgvsp: ENSP00000474981.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.79C>T
  hgvsp: ENSP00000438079.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.79C>T
  hgvsp: ENSP00000444793.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-175G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.79C>T
  hgvsp: ENSP00000416136.2:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-352C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.79C>T
  hgvsp: ENSP00000474582.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.62G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.79C>T
  hgvsp: ENSP00000445920.1:p.Leu27Phe
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.106C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.179C>T
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu27Phe
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-110011208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011208
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011208
    reference: chr 12
allele count: 1
allele frequency: 9.612981370042105e-6
allele num: 104026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.78G>A
  hgvsp: ENST00000545712.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.63C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.78G>A
  hgvsp: ENST00000541763.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-353G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.78G>A
  hgvsp: ENST00000540016.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.78G>A
  hgvsp: ENST00000544051.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.81G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.78G>A
  hgvsp: ENST00000420167.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.105G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-174C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-183C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.178G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.78G>A
  hgvsp: ENST00000503497.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.78G>A
  hgvsp: ENST00000537496.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg26Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-110011218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011218
    reference: chr 12
allele count: 3
allele frequency: 2.943600612268927e-5
allele num: 101916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.68G>A
  hgvsp: ENSP00000474881.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.68G>A
  hgvsp: ENSP00000444793.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-363G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.73C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.95G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-164C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.68G>A
  hgvsp: ENSP00000474981.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.71G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.68G>A
  hgvsp: ENSP00000416136.2:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.68G>A
  hgvsp: ENSP00000474582.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.68G>A
  hgvsp: ENSP00000438079.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-173C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.168G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.68G>A
  hgvsp: ENSP00000445920.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-110011220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011220
    reference: chr 12
allele count: 4
allele frequency: 3.939334252511325e-5
allele num: 101540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-171G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-365C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.66C>G
  hgvsp: ENSP00000438079.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.69C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-162G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.66C>G
  hgvsp: ENSP00000444793.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.166C>G
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.66C>G
  hgvsp: ENSP00000474881.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.66C>G
  hgvsp: ENSP00000474981.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.66C>G
  hgvsp: ENSP00000474582.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.66C>G
  hgvsp: ENSP00000445920.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.66C>G
  hgvsp: ENSP00000416136.2:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.75G>C
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.93C>G
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe22Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-110011222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011222
    reference: chr 12
allele count: 1
allele frequency: 9.845620667926906e-6
allele num: 101568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.64T>C
  hgvsp: ENSP00000474981.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.67T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.64T>C
  hgvsp: ENSP00000416136.2:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.64T>C
  hgvsp: ENSP00000445920.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.64T>C
  hgvsp: ENSP00000474881.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-367T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.164T>C
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.64T>C
  hgvsp: ENSP00000474582.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.77A>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.64T>C
  hgvsp: ENSP00000444793.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.64T>C
  hgvsp: ENSP00000438079.1:p.Phe22Leu
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-160A>G
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.91T>C
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe22Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-110011225-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011225
    reference: chr 12
allele count: 1
allele frequency: 9.984025559105432e-6
allele num: 100160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.61T>A
  hgvsp: ENSP00000474981.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.161T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-157A>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.61T>A
  hgvsp: ENSP00000474582.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.61T>A
  hgvsp: ENSP00000444793.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.61T>A
  hgvsp: ENSP00000438079.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-370T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.61T>A
  hgvsp: ENSP00000416136.2:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.61T>A
  hgvsp: ENSP00000445920.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-166A>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.88T>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.61T>A
  hgvsp: ENSP00000474881.1:p.Cys21Ser
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.80A>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.64T>A
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys21Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-110011226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011226
    reference: chr 12
allele count: 1
allele frequency: 9.902754946426096e-6
allele num: 100982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-371G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.60G>A
  hgvsp: ENST00000541763.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.87G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.60G>A
  hgvsp: ENST00000545712.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-165C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.60G>A
  hgvsp: ENST00000544051.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.60G>A
  hgvsp: ENST00000540016.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.60G>A
  hgvsp: ENST00000420167.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.60G>A
  hgvsp: ENST00000537496.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.81C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.63G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.60G>A
  hgvsp: ENST00000503497.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.160G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly20Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-110011227-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011227
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 100916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.159G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.59G>T
  hgvsp: ENSP00000474582.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.86G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.59G>T
  hgvsp: ENSP00000474881.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.62G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.59G>T
  hgvsp: ENSP00000445920.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.59G>T
  hgvsp: ENSP00000444793.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.59G>T
  hgvsp: ENSP00000474981.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.59G>T
  hgvsp: ENSP00000416136.2:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-164C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.59G>T
  hgvsp: ENSP00000438079.1:p.Gly20Val
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-155C>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-372G>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.82C>A
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly20Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

12-110011228-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011230
    reference: chr 12
allele count: 1
allele frequency: 9.926740653973675e-6
allele num: 100738
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-154_-153insTT
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.57_58insAA
  hgvsp: ENSP00000445920.1:p.Gly20LysfsTer74
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.84_85insAA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.57_58insAA
  hgvsp: ENSP00000474582.1:p.Gly20LysfsTer32
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.57_58insAA
  hgvsp: ENSP00000438079.1:p.Gly20LysfsTer135
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.57_58insAA
  hgvsp: ENSP00000444793.1:p.Gly20LysfsTer74
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.57_58insAA
  hgvsp: ENSP00000416136.2:p.Gly20LysfsTer115
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.83_84insTT
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-163_-162insTT
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.57_58insAA
  hgvsp: ENSP00000474981.1:p.Gly20LysfsTer74
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.57_58insAA
  hgvsp: ENSP00000474881.1:p.Gly20LysfsTer74
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-374_-373insAA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.60_61insAA
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.157_158insAA
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly20LysfsTer74
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-110011229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011229
    reference: chr 12
allele count: 2
allele frequency: 1.988545975182946e-5
allele num: 100576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.57C>T
  hgvsp: ENST00000541763.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.84C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.57C>T
  hgvsp: ENST00000540016.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-153G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.57C>T
  hgvsp: ENST00000420167.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.60C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-374C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.157C>T
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-162G>A
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.57C>T
  hgvsp: ENST00000544051.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.57C>T
  hgvsp: ENST00000537496.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.57C>T
  hgvsp: ENST00000503497.3:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.57C>T
  hgvsp: ENST00000545712.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.84G>A
  variant of: http://identifiers.org/hgnc/7530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg19Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-110011229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011229
    reference: chr 12
allele count: 29212
allele frequency: 2.904470251352211e-1
allele num: 100576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.57C>A
  hgvsp: ENST00000540016.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-162G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.57C>A
  hgvsp: ENST00000537496.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.57C>A
  hgvsp: ENST00000545712.2:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.57C>A
  hgvsp: ENST00000503497.3:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.57C>A
  hgvsp: ENST00000541763.2:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.57C>A
  hgvsp: ENST00000544051.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.60C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.84C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.57C>A
  hgvsp: ENST00000420167.2:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-374C>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-153G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.84G>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.157C>A
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 5739
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.75e1
  variant carriers: 3677
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 7.5e0
  variant carriers: 1692
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 9.75e1
  variant carriers: 2287
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 1.75e1
  variant carriers: 6215
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.25e1
  variant carriers: 1781
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: p.Arg19Arg
num of homozygotes: 3890
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-110011229-GCGCAGGCCAAGACGGCTCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011209
    reference: chr 12
allele count: 1
allele frequency: 9.942729875914731e-6
allele num: 100576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsp: ENSP00000474881.1:p.Gly13ArgfsTer50
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsp: ENSP00000445920.1:p.Gly13ArgfsTer50
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsp: ENSP00000474582.1:p.Gly13ArgfsTer147
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsp: ENSP00000474981.1:p.Gly13ArgfsTer50
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsp: ENSP00000444793.1:p.Gly13ArgfsTer50
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsp: ENSP00000438079.1:p.Gly13ArgfsTer53
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsp: ENSP00000416136.2:p.Gly13ArgfsTer57
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly13ArgfsTer50
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: GCGCAGGCCAAGACGGCTCCC
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

12-110011230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110011230
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 110011230
    reference: chr 12
allele count: 29170
allele frequency: 2.902372044893736e-1
allele num: 100504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000438079
  ensembl transcript: ENST00000544051
  gene symbol: MMAB
  hgvsc: ENST00000544051.1:c.56G>A
  hgvsp: ENSP00000438079.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474881
  ensembl transcript: ENST00000503497
  gene symbol: MMAB
  hgvsc: ENST00000503497.3:c.56G>A
  hgvsp: ENSP00000474881.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474582
  ensembl transcript: ENST00000540016
  gene symbol: MMAB
  hgvsc: ENST00000540016.1:c.56G>A
  hgvsp: ENSP00000474582.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000444793
  ensembl transcript: ENST00000537496
  gene symbol: MMAB
  hgvsc: ENST00000537496.1:c.56G>A
  hgvsp: ENSP00000444793.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000416136
  ensembl transcript: ENST00000420167
  gene symbol: MMAB
  hgvsc: ENST00000420167.2:c.56G>A
  hgvsp: ENSP00000416136.2:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000537236
  gene symbol: MMAB
  hgvsc: ENST00000537236.1:n.156G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000440379
  ensembl transcript: ENST00000539335
  gene symbol: MVK
  hgvsc: ENST00000539335.1:c.-152C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110921
  ensembl transcript: ENST00000535044
  gene symbol: MVK
  hgvsc: ENST00000535044.1:n.85C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000474981
  ensembl transcript: ENST00000541763
  gene symbol: MMAB
  hgvsc: ENST00000541763.2:c.56G>A
  hgvsp: ENSP00000474981.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110921
  ensembl protein: ENSP00000438153
  ensembl transcript: ENST00000546277
  gene symbol: MVK
  hgvsc: ENST00000546277.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/7530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000445920
  ensembl transcript: ENST00000545712
  gene symbol: MMAB
  hgvsc: ENST00000545712.2:c.56G>A
  hgvsp: ENSP00000445920.1:p.Arg19His
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000536760
  gene symbol: MMAB
  hgvsc: ENST00000536760.1:n.59G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139428
  ensembl transcript: ENST00000542390
  gene symbol: MMAB
  hgvsc: ENST00000542390.1:n.83G>A
  variant of: http://identifiers.org/hgnc/19331
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139428
  ensembl protein: ENSP00000266839
  ensembl transcript: ENST00000266839
  gene symbol: MMAB
  hgvsc: ENST00000266839.5:c.-375G>A
  variant of: http://identifiers.org/hgnc/19331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 1766
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 9.75e1
  variant carriers: 2290
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 1.25e1
  variant carriers: 4459
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 1.75e1
  variant carriers: 6253
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 748
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 7.5e0
  variant carriers: 1721
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 5720
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
hgvs: p.Arg19His
num of homozygotes: 3880
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-130935790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935790
    reference: chr 12
allele count: 3
allele frequency: 2.477987213585978e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.403C>T
  hgvsp: ENSP00000261655.4:p.Pro135Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.127C>T
  hgvsp: ENSP00000439159.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.127C>T
  hgvsp: ENSP00000440347.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro135Ser
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-130935793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935793
    reference: chr 12
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.124A>G
  hgvsp: ENSP00000440347.1:p.Lys42Glu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.124A>G
  hgvsp: ENSP00000439159.1:p.Lys42Glu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.400A>G
  hgvsp: ENSP00000261655.4:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys134Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-130935796-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935796
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935796
    reference: chr 12
allele count: 1059
allele frequency: 8.747728399140921e-3
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.397G>C
  hgvsp: ENSP00000261655.4:p.Ala133Pro
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.121G>C
  hgvsp: ENSP00000439159.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.121G>C
  hgvsp: ENSP00000440347.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28450
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.75e1
  variant carriers: 1021
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10439
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38507
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala133Pro
num of homozygotes: 32
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-130935796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935796
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935796
    reference: chr 12
allele count: 7
allele frequency: 5.78225673219891e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.121G>A
  hgvsp: ENSP00000439159.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.121G>A
  hgvsp: ENSP00000440347.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.397G>A
  hgvsp: ENSP00000261655.4:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala133Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-130935797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935797
    reference: chr 12
allele count: 3
allele frequency: 2.477905344015859e-5
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.120C>T
  hgvsp: ENST00000536002.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.396C>T
  hgvsp: ENST00000261655.4:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.120C>T
  hgvsp: ENST00000535703.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28998
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39261
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser132Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

12-130935799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935799
    reference: chr 12
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.394T>C
  hgvsp: ENSP00000261655.4:p.Ser132Pro
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.118T>C
  hgvsp: ENSP00000440347.1:p.Ser40Pro
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.118T>C
  hgvsp: ENSP00000439159.1:p.Ser40Pro
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10668
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser132Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-130935809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935809
    reference: chr 12
allele count: 9
allele frequency: 7.433593233778247e-5
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.108G>A
  hgvsp: ENST00000535703.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.108G>A
  hgvsp: ENST00000536002.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.384G>A
  hgvsp: ENST00000261655.4:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro128Pro
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: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-130935811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935811
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935811
    reference: chr 12
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.106C>T
  hgvsp: ENSP00000440347.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.106C>T
  hgvsp: ENSP00000439159.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.382C>T
  hgvsp: ENSP00000261655.4:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 39089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro128Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-130935811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935811
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935811
    reference: chr 12
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.106C>A
  hgvsp: ENSP00000440347.1:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.106C>A
  hgvsp: ENSP00000439159.1:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.382C>A
  hgvsp: ENSP00000261655.4:p.Pro128Thr
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39089
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro128Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-130935812-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935812
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935812
    reference: chr 12
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.105G>T
  hgvsp: ENSP00000439159.1:p.Arg35Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.105G>T
  hgvsp: ENSP00000440347.1:p.Arg35Ser
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.381G>T
  hgvsp: ENSP00000261655.4:p.Arg127Ser
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg127Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

12-130935815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935815
    reference: chr 12
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.102C>G
  hgvsp: ENSP00000439159.1:p.Asp34Glu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.102C>G
  hgvsp: ENSP00000440347.1:p.Asp34Glu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.378C>G
  hgvsp: ENSP00000261655.4:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp126Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-130935821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935821
    reference: chr 12
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.96T>C
  hgvsp: ENST00000536002.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.96T>C
  hgvsp: ENST00000535703.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.372T>C
  hgvsp: ENST00000261655.4:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro124Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-130935827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935827
    reference: chr 12
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.366G>C
  hgvsp: ENST00000261655.4:c.366G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.90G>C
  hgvsp: ENST00000535703.1:c.90G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.90G>C
  hgvsp: ENST00000536002.1:c.90G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro122Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-130935827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935827
    reference: chr 12
allele count: 337
allele frequency: 2.784479624549691e-3
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.366G>A
  hgvsp: ENST00000261655.4:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.90G>A
  hgvsp: ENST00000536002.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.90G>A
  hgvsp: ENST00000535703.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 9.75e1
  variant carriers: 336
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38620
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro122Pro
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-130935828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130935828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 130935828
    reference: chr 12
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000440347
  ensembl transcript: ENST00000535703
  gene symbol: RIMBP2
  hgvsc: ENST00000535703.1:c.89C>T
  hgvsp: ENSP00000440347.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000261655
  ensembl transcript: ENST00000261655
  gene symbol: RIMBP2
  hgvsc: ENST00000261655.4:c.365C>T
  hgvsp: ENSP00000261655.4:p.Pro122Leu
  variant of: http://identifiers.org/hgnc/30339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060709
  ensembl protein: ENSP00000439159
  ensembl transcript: ENST00000536002
  gene symbol: RIMBP2
  hgvsc: ENST00000536002.1:c.89C>T
  hgvsp: ENSP00000439159.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/30339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro122Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum

GenotypeDepth
all individuals: 790
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2531
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15454
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1453
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 2.489081e6

GenotypeDepth
all individuals: 1078
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27427
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.793e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.489037e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -7.903e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeDepth
all individuals: 641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2190
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7133
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.464e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 2.489015e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

QD
type: SiteQuality
SIO_000300: 2.513e1

GenotypeDepth
all individuals: 778
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 7120
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15450
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.488227e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeDepth
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 15449
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.4872e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 4.944e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeDepth
all individuals: 676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
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SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.056e-1

DP
type: SiteQuality
SIO_000300: 2.486613e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.908e0

QD
type: SiteQuality
SIO_000300: 2.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQ
type: SiteQuality
SIO_000300: 5.758e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.480704e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.574e0

GenotypeQuality
all individuals: 551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 895
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2167
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3088
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 5.539e0

DP
type: SiteQuality
SIO_000300: 2.468655e6

VQSLOD
type: SiteQuality
SIO_000300: -6.985e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
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variant carriers: 0

GenotypeQuality
all individuals: 3073
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6763
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variant carriers: 0

GenotypeQuality
all individuals: 24411
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variant carriers: 0

GenotypeQuality
all individuals: 15445
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
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variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

DP
type: SiteQuality
SIO_000300: 2.461967e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.416e1

FS
type: SiteQuality
SIO_000300: 9.048999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 6
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
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: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.457791e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

FS
type: SiteQuality
SIO_000300: 3.607e0

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 1757
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 5453

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2601
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 13

African
type: Population
allele count: 404
allele frequency: 3.904890779045041e-2
allele num: 10346
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 579
allele frequency: 8.864053888548683e-2
allele num: 6532
num of homozygotes: 30

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

Other
type: Population
allele count: 51
allele frequency: 5.666666666666666e-2
allele num: 900
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 4223
allele frequency: 6.369340291393925e-2
allele num: 66302
num of homozygotes: 151

Latino
type: Population
allele count: 276
allele frequency: 2.405019170442663e-2
allele num: 11476
num of homozygotes: 3

South Asian
type: Population
allele count: 213
allele frequency: 1.300683927699072e-2
allele num: 16376
num of homozygotes: 5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 2.52042e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20256
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GenotypeQuality
all individuals: 990
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GenotypeQuality
all individuals: 2188
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GenotypeQuality
all individuals: 2161
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e0

DP
type: SiteQuality
SIO_000300: 2.388025e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.633e1

VQSLOD
type: SiteQuality
SIO_000300: -2.34e0

FS
type: SiteQuality
SIO_000300: 1.4081e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14733
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
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GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.874467260751647e-4
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.379947e6

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
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variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 4.25e1
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GenotypeQuality
all individuals: 14728
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.379883e6

FS
type: SiteQuality
SIO_000300: 5.275e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

GenotypeQuality
all individuals: 2883
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1366
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 17414
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2690
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15418
bin: 9.75e1
variant carriers: 870

GenotypeQuality
all individuals: 875
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1267
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1863
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 7
allele frequency: 6.114605171208945e-4
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 580
allele frequency: 6.767794632438739e-2
allele num: 8570
num of homozygotes: 24

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.071940488070398e-5
allele num: 66138
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.543237250554324e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 318
allele frequency: 1.952117863720074e-2
allele num: 16290
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.41e-2

MQ
type: SiteQuality
SIO_000300: 6.041e1

DP
type: SiteQuality
SIO_000300: 2.36561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeDepth
all individuals: 278
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.87941751021133e-5
allele num: 11262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.601463e6

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeDepth
all individuals: 319
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26018
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variant carriers: 0

GenotypeQuality
all individuals: 1584
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variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 2650
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variant carriers: 0

GenotypeQuality
all individuals: 683
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variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.848e1

DP
type: SiteQuality
SIO_000300: 1.602687e6

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

FS
type: SiteQuality
SIO_000300: 3.992e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeDepth
all individuals: 7616
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2300
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
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variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
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variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
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variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 27668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
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GenotypeQuality
all individuals: 2583
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variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7593
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.420454545454545e-4
allele num: 63360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 4.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.607416e6

GenotypeDepth
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 319
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4250
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
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variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 7.5e0
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GenotypeQuality
all individuals: 7058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629885582032141e-5
allele num: 61354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.175889328063241e-5
allele num: 16192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 3.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 1.608669e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27777
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.611397e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

GenotypeDepth
all individuals: 235
bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61892
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.177226213803614e-4
allele num: 9186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.037e1

FS
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 1.613426e6

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeDepth
all individuals: 1033
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
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variant carriers: 0

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeDepth
all individuals: 421
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 1.765e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

DP
type: SiteQuality
SIO_000300: 1.613426e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeDepth
all individuals: 2708
bin: 7.5e0
variant carriers: 134

GenotypeDepth
all individuals: 305
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 402
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variant carriers: 31

GenotypeDepth
all individuals: 229
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variant carriers: 5

GenotypeQuality
all individuals: 2223
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variant carriers: 56

GenotypeQuality
all individuals: 4956
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variant carriers: 62

GenotypeQuality
all individuals: 850
bin: 1.25e1
variant carriers: 24

GenotypeQuality
all individuals: 704
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variant carriers: 62

GenotypeQuality
all individuals: 4824
bin: 2.5e0
variant carriers: 18

GenotypeQuality
all individuals: 1248
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 1200
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 1674
bin: 2.75e1
variant carriers: 35

GenotypeQuality
all individuals: 2211
bin: 5.25e1
variant carriers: 59

GenotypeQuality
all individuals: 22479
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variant carriers: 50

GenotypeQuality
all individuals: 279
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variant carriers: 43

GenotypeQuality
all individuals: 2028
bin: 5.75e1
variant carriers: 49

GenotypeQuality
all individuals: 2661
bin: 2.25e1
variant carriers: 24

GenotypeQuality
all individuals: 1113
bin: 1.75e1
variant carriers: 40

GenotypeQuality
all individuals: 2093
bin: 3.25e1
variant carriers: 45

GenotypeQuality
all individuals: 3441
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variant carriers: 562

GenotypeQuality
all individuals: 2216
bin: 4.75e1
variant carriers: 64

GenotypeQuality
all individuals: 1930
bin: 4.25e1
variant carriers: 63

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 31

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 62

European (Non-Finnish)
type: Population
allele count: 751
allele frequency: 1.366498053058699e-2
allele num: 54958
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 158
allele frequency: 3.461875547765118e-2
allele num: 4564
num of homozygotes: 0

East Asian
type: Population
allele count: 56
allele frequency: 7.476635514018692e-3
allele num: 7490
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.599922163845106e-3
allele num: 10278
num of homozygotes: 0

African
type: Population
allele count: 192
allele frequency: 2.448979591836735e-2
allele num: 7840
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.71919770773639e-2
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.891146957957577e-4
allele num: 15746
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 1.95422e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.752e2

DP
type: SiteQuality
SIO_000300: 1.544355e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

GenotypeDepth
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
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GenotypeDepth
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1814
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variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1995
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1386
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1543
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 482
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GenotypeQuality
all individuals: 908
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variant carriers: 1

GenotypeQuality
all individuals: 31907
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653275138048474e-5
allele num: 60486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.122334455667789e-4
allele num: 8910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.979885057471264e-5
allele num: 11136
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.6197e1

QD
type: SiteQuality
SIO_000300: 1.19e1

DP
type: SiteQuality
SIO_000300: 1.531278e6

VQSLOD
type: SiteQuality
SIO_000300: -2.656e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeDepth
all individuals: 358
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variant carriers: 0

GenotypeDepth
all individuals: 6484
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variant carriers: 0

GenotypeDepth
all individuals: 148
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GenotypeDepth
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 1934
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GenotypeQuality
all individuals: 315
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GenotypeQuality
all individuals: 32016
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 792
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 2997
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.304255881575469e-5
allele num: 60528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.455e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

QD
type: SiteQuality
SIO_000300: 5.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.532749e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeDepth
all individuals: 198
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variant carriers: 0

GenotypeDepth
all individuals: 228
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variant carriers: 0

GenotypeDepth
all individuals: 150
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GenotypeDepth
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1913
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GenotypeQuality
all individuals: 1349
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variant carriers: 0

GenotypeQuality
all individuals: 7271
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GenotypeQuality
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GenotypeQuality
all individuals: 362
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

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

African
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allele frequency: 3.367759317467445e-4
allele num: 8908
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.648695881557688e-5
allele num: 60654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.64766361299677e-5
allele num: 60692
num of homozygotes: 0

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

DP
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.06e0

ReadPosRankSum
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SIO_000300: 1.77e-1

MQ
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SIO_000300: 5.871e1

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

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

European (Finnish)
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num of homozygotes: 0

Other
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African
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.135847342117219e-4
allele num: 8804
num of homozygotes: 0

Latino
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 60502
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South Asian
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European (Finnish)
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Latino
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Other
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East Asian
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European (Non-Finnish)
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African
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South Asian
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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QD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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FS
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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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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.533091568449683e-4
allele num: 15442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59468
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.801e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

DP
type: SiteQuality
SIO_000300: 1.394201e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58510
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.510416666666667e-5
allele num: 15360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.231e0

DP
type: SiteQuality
SIO_000300: 1.35045e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
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SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.3203e1

QD
type: SiteQuality
SIO_000300: 1.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.265e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.378686964795433e-4
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.618e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 3.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.292728e6

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeDepth
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2634
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variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.917177914110429e-4
allele num: 5216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56862
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.991e-1

FS
type: SiteQuality
SIO_000300: 8.446e0

DP
type: SiteQuality
SIO_000300: 1.290398e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeDepth
all individuals: 273
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.590922148807814e-5
allele num: 55696
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.219809709685289e-4
allele num: 8198
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.255522e6

QD
type: SiteQuality
SIO_000300: 1.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 273
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55490
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.992812936713915e-4
allele num: 10018
num of homozygotes: 0

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

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

FS
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -4.8e-3

MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12137
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

Other
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allele frequency: 1.38121546961326e-3
allele num: 724
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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SIO_000300: 2.17e0

VQSLOD
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SIO_000300: 2.61e-1

ClippingRankSum
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ReadPosRankSum
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QD
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FS
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DP
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.824085221261537e-5
allele num: 54822
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

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

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

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

ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.2e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.811659842747926e-5
allele num: 55198
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: 1.16e0

FS
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SIO_000300: 1.583e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.255758e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.235177865612648e-4
allele num: 8096
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.06e-1

MQ
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VQSLOD
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QD
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FS
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.639275056408763e-5
allele num: 54956
num of homozygotes: 0

African
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num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
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FS
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 3.13e-2

ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 301

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 437

GenotypeQuality
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bin: 2.25e1
variant carriers: 242

GenotypeQuality
all individuals: 1298
bin: 4.75e1
variant carriers: 451

African
type: Population
allele count: 3570
allele frequency: 4.33042212518195e-1
allele num: 8244
num of homozygotes: 701

Latino
type: Population
allele count: 2836
allele frequency: 2.9140978216194e-1
allele num: 9732
num of homozygotes: 316

European (Finnish)
type: Population
allele count: 1671
allele frequency: 3.425584255842559e-1
allele num: 4878
num of homozygotes: 237

Other
type: Population
allele count: 240
allele frequency: 3.370786516853932e-1
allele num: 712
num of homozygotes: 35

South Asian
type: Population
allele count: 3524
allele frequency: 2.348081023454158e-1
allele num: 15008
num of homozygotes: 426

European (Non-Finnish)
type: Population
allele count: 16391
allele frequency: 2.982567872479802e-1
allele num: 54956
num of homozygotes: 2132

East Asian
type: Population
allele count: 980
allele frequency: 1.390860062446778e-1
allele num: 7046
num of homozygotes: 43

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.552222e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 2.338e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7414
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2295
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 890
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.21300339640951e-4
allele num: 8244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.552222e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.338e1

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 69

GenotypeDepth
all individuals: 574
bin: 4.25e1
variant carriers: 288

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 19

GenotypeDepth
all individuals: 9069
bin: 2.75e1
variant carriers: 3655

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 17

GenotypeDepth
all individuals: 51
bin: 6.25e1
variant carriers: 31

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 142

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 243

GenotypeQuality
all individuals: 981
bin: 2.5e0
variant carriers: 74

GenotypeQuality
all individuals: 1281
bin: 4.75e1
variant carriers: 453

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 229

GenotypeQuality
all individuals: 501
bin: 1.25e1
variant carriers: 126

GenotypeQuality
all individuals: 874
bin: 4.25e1
variant carriers: 192

GenotypeQuality
all individuals: 1053
bin: 5.25e1
variant carriers: 437

GenotypeQuality
all individuals: 1994
bin: 3.25e1
variant carriers: 308

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 115

GenotypeQuality
all individuals: 1393
bin: 7.5e0
variant carriers: 122

GenotypeQuality
all individuals: 8721
bin: 2.25e1
variant carriers: 243

GenotypeQuality
all individuals: 1724
bin: 3.75e1
variant carriers: 362

GenotypeQuality
all individuals: 640
bin: 1.75e1
variant carriers: 191

GenotypeQuality
all individuals: 11285
bin: 6.25e1
variant carriers: 407

GenotypeQuality
all individuals: 2029
bin: 6.75e1
variant carriers: 362

GenotypeQuality
all individuals: 1758
bin: 2.75e1
variant carriers: 160

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 190

GenotypeQuality
all individuals: 23154
bin: 9.75e1
variant carriers: 22816

GenotypeQuality
all individuals: 605
bin: 7.25e1
variant carriers: 162

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 273

European (Finnish)
type: Population
allele count: 1671
allele frequency: 3.432621199671323e-1
allele num: 4868
num of homozygotes: 238

Latino
type: Population
allele count: 2846
allele frequency: 2.914789020893077e-1
allele num: 9764
num of homozygotes: 318

East Asian
type: Population
allele count: 978
allele frequency: 1.387234042553191e-1
allele num: 7050
num of homozygotes: 43

South Asian
type: Population
allele count: 3526
allele frequency: 2.347849247569583e-1
allele num: 15018
num of homozygotes: 426

African
type: Population
allele count: 3556
allele frequency: 4.326034063260341e-1
allele num: 8220
num of homozygotes: 701

Other
type: Population
allele count: 238
allele frequency: 3.342696629213483e-1
allele num: 712
num of homozygotes: 34

European (Non-Finnish)
type: Population
allele count: 16355
allele frequency: 2.980572969820673e-1
allele num: 54872
num of homozygotes: 2120

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 2.327e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.55681e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.774209e6

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

FS
type: SiteQuality
SIO_000300: 3.433e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.240000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

QD
type: SiteQuality
SIO_000300: 2.494e1

GenotypeQuality
all individuals: 544
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.774066e6

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.006e1

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 7
allele frequency: 7.760532150776054e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202681980817222e-4
allele num: 66518
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.799342741156003e-4
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 620
allele frequency: 7.184241019698726e-2
allele num: 8630
num of homozygotes: 25

South Asian
type: Population
allele count: 416
allele frequency: 2.521517759728452e-2
allele num: 16498
num of homozygotes: 7

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

DP
type: SiteQuality
SIO_000300: 1.785183e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.636804461146806e-4
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.785183e6

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 2716
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.878e0

DP
type: SiteQuality
SIO_000300: 1.74514e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 2951
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.684e0

DP
type: SiteQuality
SIO_000300: 1.744703e6

FS
type: SiteQuality
SIO_000300: 3.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 315
bin: 2.25e1
variant carriers: 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: 66526
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.785467128027682e-4
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 6598
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.286e1

DP
type: SiteQuality
SIO_000300: 1.743403e6

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
all individuals: 1496
bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.994e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.742755e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.551e0

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 10669
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.551e0

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.742755e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.994e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 79
bin: 5.25e1
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: 16494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 6.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
SIO_000300: 1.315e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.742675e6

GenotypeQuality
all individuals: 1489
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 10358
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.742221e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 5.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.740707e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.73986e6

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.922810661128419e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 315
allele frequency: 4.736272328140976e-3
allele num: 66508
num of homozygotes: 1

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.758061401815022e-4
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.071645415907711e-4
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.339e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.73986e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

GenotypeQuality
all individuals: 149
bin: 2.75e1
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: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1