12-53591638-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591638
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591639
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10860
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.298dupC
  hgvsp: ENSP00000437375.1:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.298dupC
  hgvsp: ENSP00000345501.4:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.270dupC
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.298dupC
  hgvsp: ENSP00000455374.2:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.298dupC
  hgvsp: ENSP00000408741.3:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.298dupC
  hgvsp: ENSP00000450366.1:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.298dupC
  hgvsp: ENSP00000267082.4:p.Arg100ProfsTer49
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.351dupC
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg100ProfsTer49
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-53591641-GGCTCCTCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591632
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000345501.4:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000455374.2:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000450366.1:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.259_267delTGGAGGAGC
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000267082.4:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.340_348delTGGAGGAGC
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000437375.1:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.287_295delTGGAGGAGC
  hgvsp: ENSP00000408741.3:p.Leu96_Glu98del
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu96_Glu98del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: GGCTCCTCCA
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-53591647-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591647
    reference: chr 12
allele count: 314
allele frequency: 2.846781504986401e-2
allele num: 11030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.290A>T
  hgvsp: ENSP00000450366.1:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.290A>T
  hgvsp: ENSP00000408741.3:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.343A>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.290A>T
  hgvsp: ENSP00000455374.2:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.290A>T
  hgvsp: ENSP00000267082.4:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.262A>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.290A>T
  hgvsp: ENSP00000345501.4:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.290A>T
  hgvsp: ENSP00000437375.1:p.Glu97Val
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 7.5e0
  variant carriers: 444
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33455
  bin: 2.5e0
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 47
hgvs: p.Glu97Val
num of homozygotes: 8
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-53591657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591657
    reference: chr 12
allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.280G>A
  hgvsp: ENST00000552935.1:c.280G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.280G>A
  hgvsp: ENSP00000437375.1:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.280G>A
  hgvsp: ENSP00000345501.4:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.280G>A
  hgvsp: ENSP00000455374.2:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.280G>A
  hgvsp: ENSP00000267082.4:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.252G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.333G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.280G>A
  hgvsp: ENSP00000450366.1:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.280G>A
  hgvsp: ENSP00000408741.3:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31588
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu94Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-53591671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591671
    reference: chr 12
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.266G>C
  hgvsp: ENSP00000267082.4:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.266G>C
  hgvsp: ENSP00000450366.1:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.319G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.266G>C
  hgvsp: ENST00000549086.2:c.266G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.266G>C
  hgvsp: ENSP00000408741.3:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.266G>C
  hgvsp: ENSP00000455374.2:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.266G>C
  hgvsp: ENSP00000456305.1:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.266G>C
  hgvsp: ENSP00000437375.1:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.238G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.266G>C
  hgvsp: ENSP00000345501.4:p.Arg89Pro
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31051
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg89Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

12-53591671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591671
    reference: chr 12
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.266G>A
  hgvsp: ENSP00000267082.4:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.266G>A
  hgvsp: ENSP00000408741.3:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.266G>A
  hgvsp: ENSP00000456305.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.266G>A
  hgvsp: ENSP00000345501.4:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.266G>A
  hgvsp: ENST00000549086.2:c.266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.266G>A
  hgvsp: ENSP00000455374.2:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.266G>A
  hgvsp: ENSP00000450366.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.238G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.319G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.266G>A
  hgvsp: ENSP00000437375.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg89Gln
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53591685-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591685
    reference: chr 12
allele count: 1
allele frequency: 7.79423226812159e-5
allele num: 12830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.252G>T
  hgvsp: ENSP00000446703.2:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.224G>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.252G>T
  hgvsp: ENSP00000455374.2:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.305G>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.252G>T
  hgvsp: ENSP00000408741.3:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.252G>T
  hgvsp: ENSP00000456305.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.252G>T
  hgvsp: ENSP00000450366.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.252G>T
  hgvsp: ENSP00000267082.4:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.252G>T
  hgvsp: ENSP00000345501.4:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.252G>T
  hgvsp: ENSP00000437375.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu84Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-53591685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591685
    reference: chr 12
allele count: 1
allele frequency: 7.79423226812159e-5
allele num: 12830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.305G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.252G>A
  hgvsp: ENST00000422257.3:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.252G>A
  hgvsp: ENST00000338737.4:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.252G>A
  hgvsp: ENST00000549086.2:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.224G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.252G>A
  hgvsp: ENST00000550743.2:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.252G>A
  hgvsp: ENST00000552935.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.252G>A
  hgvsp: ENST00000552972.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.252G>A
  hgvsp: ENST00000542497.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.252G>A
  hgvsp: ENST00000267082.5:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu84Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

12-53591693-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591693
    reference: chr 12
allele count: 1
allele frequency: 7.818608287724784e-5
allele num: 12790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.244C>G
  hgvsp: ENSP00000446703.2:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.244C>G
  hgvsp: ENSP00000408741.3:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.244C>G
  hgvsp: ENSP00000450366.1:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.244C>G
  hgvsp: ENSP00000345501.4:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.216C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.244C>G
  hgvsp: ENSP00000456305.1:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.244C>G
  hgvsp: ENSP00000437375.1:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.244C>G
  hgvsp: ENSP00000267082.4:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.244C>G
  hgvsp: ENSP00000455374.2:p.Arg82Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.297C>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg82Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-53591705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591705
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591705
    reference: chr 12
allele count: 4
allele frequency: 3.1640563202025e-4
allele num: 12642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.232C>T
  hgvsp: ENSP00000408741.3:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.232C>T
  hgvsp: ENSP00000446703.2:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.232C>T
  hgvsp: ENSP00000456305.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.232C>T
  hgvsp: ENSP00000267082.4:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.232C>T
  hgvsp: ENSP00000450366.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.232C>T
  hgvsp: ENSP00000345501.4:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.204C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.232C>T
  hgvsp: ENSP00000455374.2:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.232C>T
  hgvsp: ENSP00000437375.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.285C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Arg78Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-53594159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594159
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.69C>A
  hgvsp: ENST00000267082.5:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.69C>A
  hgvsp: ENST00000552935.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+697C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.69C>A
  hgvsp: ENST00000422257.3:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.69C>A
  hgvsp: ENST00000542497.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.69C>A
  hgvsp: ENST00000338737.4:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.69C>A
  hgvsp: ENST00000552972.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.122C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.69C>A
  hgvsp: ENST00000550743.2:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.69C>A
  hgvsp: ENST00000549086.2:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala23Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-53591706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591706
    reference: chr 12
allele count: 9
allele frequency: 7.140590288797207e-4
allele num: 12604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.231G>A
  hgvsp: ENST00000552972.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.203G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.231G>A
  hgvsp: ENST00000338737.4:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.231G>A
  hgvsp: ENST00000550743.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.231G>A
  hgvsp: ENST00000542497.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.284G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.231G>A
  hgvsp: ENST00000422257.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.231G>A
  hgvsp: ENST00000552935.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.231G>A
  hgvsp: ENST00000267082.5:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.231G>A
  hgvsp: ENST00000549086.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27120
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20866
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ala77Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-53591709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591709
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591709
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 12646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.228G>A
  hgvsp: ENST00000552935.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.228G>A
  hgvsp: ENST00000550743.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.228G>A
  hgvsp: ENST00000267082.5:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.228G>A
  hgvsp: ENST00000549086.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.281G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.228G>A
  hgvsp: ENST00000422257.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.200G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.228G>A
  hgvsp: ENST00000552972.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.228G>A
  hgvsp: ENST00000338737.4:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.228G>A
  hgvsp: ENST00000542497.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20522
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu76Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-53591754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591754
    reference: chr 12
allele count: 3
allele frequency: 2.871362940275651e-4
allele num: 10448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.174-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.255-19G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.202-19G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35537
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

12-53591755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591755
    reference: chr 12
allele count: 2
allele frequency: 1.902949571836346e-4
allele num: 10510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.255-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.174-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.202-20C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-53591781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591781
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591781
    reference: chr 12
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.174-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.255-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.202-46G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-53591786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53591786
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53591786
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 9490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.174-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.255-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.202-51C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

12-53593976-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593976
    reference: chr 12
allele count: 1
allele frequency: 8.602890571231935e-6
allele num: 116240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+880G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+51G>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-53593977-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593977
    reference: chr 12
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+879T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+50T>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19426
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-53593979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593979
    reference: chr 12
allele count: 1
allele frequency: 8.534607834769993e-6
allele num: 117170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+877T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+48T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+48T>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

12-53593988-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593988
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593988
    reference: chr 12
allele count: 1
allele frequency: 8.482339768601771e-6
allele num: 117892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+868G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+39G>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53593990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593990
    reference: chr 12
allele count: 75
allele frequency: 6.356686386520435e-4
allele num: 117986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+866G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+37G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23740
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18633
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53593995-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593995
    reference: chr 12
allele count: 1
allele frequency: 8.444519506840061e-6
allele num: 118420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+861T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+32T>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-53593997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53593997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53593997
    reference: chr 12
allele count: 2
allele frequency: 1.686881125487087e-5
allele num: 118562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+859T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+30T>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26622
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-53594003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594003
    reference: chr 12
allele count: 2
allele frequency: 1.681859463823203e-5
allele num: 118916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+853G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+24G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-53594009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594009
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594009
    reference: chr 12
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+18G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+847G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-53594011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594011
    reference: chr 12
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+845T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+16T>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-53594014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594014
    reference: chr 12
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+842C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+13C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21181
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

12-53594018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594018
    reference: chr 12
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+838G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+9G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-53594021-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594020
    reference: chr 12
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.254+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+834delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.201+5delA
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
hgvs: c.201+5delA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: CT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-53594037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594037
    reference: chr 12
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.244G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.191G>A
  hgvsp: ENSP00000456305.1:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+819G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.191G>A
  hgvsp: ENSP00000437375.1:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.191G>A
  hgvsp: ENSP00000267082.4:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.191G>A
  hgvsp: ENSP00000450366.1:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.191G>A
  hgvsp: ENSP00000408741.3:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.191G>A
  hgvsp: ENSP00000446703.2:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.191G>A
  hgvsp: ENSP00000455374.2:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.191G>A
  hgvsp: ENSP00000345501.4:p.Cys64Tyr
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys64Tyr
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: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-53594042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594042
    reference: chr 12
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.186A>G
  hgvsp: ENST00000542497.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.186A>G
  hgvsp: ENST00000267082.5:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.239A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.186A>G
  hgvsp: ENST00000338737.4:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.186A>G
  hgvsp: ENST00000550743.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.186A>G
  hgvsp: ENST00000552972.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.186A>G
  hgvsp: ENST00000422257.3:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.186A>G
  hgvsp: ENST00000549086.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+814A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.186A>G
  hgvsp: ENST00000552935.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala62Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-53594044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594044
    reference: chr 12
allele count: 6
allele frequency: 4.960235445842496e-5
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.184G>A
  hgvsp: ENSP00000408741.3:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.184G>A
  hgvsp: ENSP00000455374.2:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.184G>A
  hgvsp: ENSP00000437375.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.184G>A
  hgvsp: ENSP00000456305.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.184G>A
  hgvsp: ENSP00000450366.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.184G>A
  hgvsp: ENSP00000345501.4:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.237G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+812G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.184G>A
  hgvsp: ENSP00000267082.4:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.184G>A
  hgvsp: ENSP00000446703.2:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala62Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

12-53594045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594045
    reference: chr 12
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.183T>C
  hgvsp: ENST00000338737.4:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.183T>C
  hgvsp: ENST00000549086.2:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+811T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.236T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.183T>C
  hgvsp: ENST00000550743.2:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.183T>C
  hgvsp: ENST00000542497.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.183T>C
  hgvsp: ENST00000422257.3:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.183T>C
  hgvsp: ENST00000267082.5:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.183T>C
  hgvsp: ENST00000552972.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.183T>C
  hgvsp: ENST00000552935.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys61Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-53594052-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594052
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594052
    reference: chr 12
allele count: 2
allele frequency: 1.651718613217052e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.176C>A
  hgvsp: ENSP00000267082.4:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.176C>A
  hgvsp: ENSP00000345501.4:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.176C>A
  hgvsp: ENSP00000437375.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.176C>A
  hgvsp: ENSP00000408741.3:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.176C>A
  hgvsp: ENSP00000450366.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.176C>A
  hgvsp: ENSP00000446703.2:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+804C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.229C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.176C>A
  hgvsp: ENSP00000456305.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.176C>A
  hgvsp: ENSP00000455374.2:p.Pro59His
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro59His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-53594053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594053
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594053
    reference: chr 12
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.175C>T
  hgvsp: ENSP00000455374.2:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.175C>T
  hgvsp: ENSP00000456305.1:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.175C>T
  hgvsp: ENSP00000345501.4:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.228C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.175C>T
  hgvsp: ENSP00000437375.1:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.175C>T
  hgvsp: ENSP00000446703.2:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.175C>T
  hgvsp: ENSP00000450366.1:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+803C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.175C>T
  hgvsp: ENSP00000408741.3:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.175C>T
  hgvsp: ENSP00000267082.4:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47139
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro59Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-53594060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594060
    reference: chr 12
allele count: 9
allele frequency: 7.426845571124424e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.168C>T
  hgvsp: ENST00000267082.5:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.168C>T
  hgvsp: ENST00000422257.3:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.168C>T
  hgvsp: ENST00000550743.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.168C>T
  hgvsp: ENST00000552935.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.221C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.168C>T
  hgvsp: ENST00000338737.4:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.168C>T
  hgvsp: ENST00000549086.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.168C>T
  hgvsp: ENST00000552972.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+796C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.168C>T
  hgvsp: ENST00000542497.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu56Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-53594072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594072
    reference: chr 12
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+784G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.156G>A
  hgvsp: ENST00000422257.3:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.156G>A
  hgvsp: ENST00000542497.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.209G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.156G>A
  hgvsp: ENST00000552972.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.156G>A
  hgvsp: ENST00000267082.5:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.156G>A
  hgvsp: ENST00000550743.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.156G>A
  hgvsp: ENST00000338737.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.156G>A
  hgvsp: ENST00000549086.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.156G>A
  hgvsp: ENST00000552935.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln52Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-53594082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594082
    reference: chr 12
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.146C>T
  hgvsp: ENSP00000455374.2:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.199C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.146C>T
  hgvsp: ENSP00000267082.4:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.146C>T
  hgvsp: ENSP00000456305.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.146C>T
  hgvsp: ENSP00000450366.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.146C>T
  hgvsp: ENSP00000345501.4:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.146C>T
  hgvsp: ENSP00000408741.3:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.146C>T
  hgvsp: ENSP00000446703.2:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.146C>T
  hgvsp: ENSP00000437375.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+774C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro49Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

12-53594089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594089
    reference: chr 12
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.139C>T
  hgvsp: ENSP00000446703.2:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.139C>T
  hgvsp: ENSP00000345501.4:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.139C>T
  hgvsp: ENSP00000455374.2:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.139C>T
  hgvsp: ENSP00000456305.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.139C>T
  hgvsp: ENSP00000437375.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.139C>T
  hgvsp: ENSP00000450366.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+767C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.139C>T
  hgvsp: ENSP00000267082.4:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.139C>T
  hgvsp: ENSP00000408741.3:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.192C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro47Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-53594101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594101
    reference: chr 12
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.127G>A
  hgvsp: ENSP00000446703.2:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.127G>A
  hgvsp: ENSP00000267082.4:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.127G>A
  hgvsp: ENSP00000345501.4:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.127G>A
  hgvsp: ENSP00000456305.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.127G>A
  hgvsp: ENSP00000437375.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.127G>A
  hgvsp: ENSP00000450366.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.127G>A
  hgvsp: ENSP00000455374.2:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+755G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.180G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.127G>A
  hgvsp: ENSP00000408741.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly43Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-53594107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594107
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.121A>G
  hgvsp: ENSP00000446703.2:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.121A>G
  hgvsp: ENSP00000450366.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.121A>G
  hgvsp: ENSP00000408741.3:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.121A>G
  hgvsp: ENSP00000437375.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.121A>G
  hgvsp: ENSP00000456305.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.121A>G
  hgvsp: ENSP00000267082.4:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.174A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.121A>G
  hgvsp: ENSP00000455374.2:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.121A>G
  hgvsp: ENSP00000345501.4:p.Met41Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+749A>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met41Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-53594118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594118
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.110C>G
  hgvsp: ENSP00000450366.1:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.110C>G
  hgvsp: ENSP00000455374.2:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.110C>G
  hgvsp: ENSP00000267082.4:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.110C>G
  hgvsp: ENSP00000456305.1:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+738C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.110C>G
  hgvsp: ENSP00000437375.1:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.163C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.110C>G
  hgvsp: ENSP00000345501.4:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.110C>G
  hgvsp: ENSP00000446703.2:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.110C>G
  hgvsp: ENSP00000408741.3:p.Pro37Arg
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro37Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-53594119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594119
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.109C>T
  hgvsp: ENSP00000345501.4:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+737C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.109C>T
  hgvsp: ENSP00000455374.2:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.109C>T
  hgvsp: ENSP00000446703.2:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.109C>T
  hgvsp: ENSP00000267082.4:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.109C>T
  hgvsp: ENSP00000450366.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.109C>T
  hgvsp: ENSP00000408741.3:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.109C>T
  hgvsp: ENSP00000437375.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.162C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.109C>T
  hgvsp: ENSP00000456305.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro37Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-53594119-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594119
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.109C>G
  hgvsp: ENSP00000408741.3:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.162C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.109C>G
  hgvsp: ENSP00000446703.2:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.109C>G
  hgvsp: ENSP00000455374.2:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.109C>G
  hgvsp: ENSP00000267082.4:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.109C>G
  hgvsp: ENSP00000345501.4:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.109C>G
  hgvsp: ENSP00000437375.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.109C>G
  hgvsp: ENSP00000450366.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.109C>G
  hgvsp: ENSP00000456305.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+737C>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro37Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-53594124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594124
    reference: chr 12
allele count: 118
allele frequency: 9.727947238252267e-4
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.104G>A
  hgvsp: ENSP00000450366.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.104G>A
  hgvsp: ENSP00000408741.3:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.104G>A
  hgvsp: ENSP00000345501.4:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.104G>A
  hgvsp: ENSP00000446703.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+732G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.104G>A
  hgvsp: ENSP00000456305.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.104G>A
  hgvsp: ENSP00000267082.4:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.104G>A
  hgvsp: ENSP00000455374.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.104G>A
  hgvsp: ENSP00000437375.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.157G>A
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg35Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-53594125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594125
    reference: chr 12
allele count: 9
allele frequency: 7.418764528413868e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+731C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.156C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.103C>T
  hgvsp: ENSP00000455374.2:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.103C>T
  hgvsp: ENSP00000408741.3:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.103C>T
  hgvsp: ENSP00000446703.2:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.103C>T
  hgvsp: ENSP00000267082.4:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.103C>T
  hgvsp: ENSP00000456305.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.103C>T
  hgvsp: ENSP00000450366.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.103C>T
  hgvsp: ENSP00000437375.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.103C>T
  hgvsp: ENSP00000345501.4:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Arg35Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-53594125-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594125
    reference: chr 12
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.103C>G
  hgvsp: ENSP00000437375.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.103C>G
  hgvsp: ENSP00000456305.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.103C>G
  hgvsp: ENSP00000267082.4:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.103C>G
  hgvsp: ENSP00000450366.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.103C>G
  hgvsp: ENSP00000408741.3:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.156C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.103C>G
  hgvsp: ENSP00000455374.2:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.103C>G
  hgvsp: ENSP00000345501.4:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.103C>G
  hgvsp: ENSP00000446703.2:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+731C>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg35Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-53594135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594135
    reference: chr 12
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.146C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.93C>T
  hgvsp: ENST00000552935.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.93C>T
  hgvsp: ENST00000422257.3:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.93C>T
  hgvsp: ENST00000267082.5:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.93C>T
  hgvsp: ENST00000549086.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.93C>T
  hgvsp: ENST00000542497.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.93C>T
  hgvsp: ENST00000552972.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.93C>T
  hgvsp: ENST00000338737.4:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.93C>T
  hgvsp: ENST00000550743.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+721C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala31Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-53594141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594141
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.87G>T
  hgvsp: ENST00000422257.3:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.87G>T
  hgvsp: ENST00000550743.2:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.87G>T
  hgvsp: ENST00000267082.5:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.140G>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.87G>T
  hgvsp: ENST00000549086.2:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.87G>T
  hgvsp: ENST00000552935.1:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.87G>T
  hgvsp: ENST00000552972.1:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.87G>T
  hgvsp: ENST00000338737.4:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+715G>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.87G>T
  hgvsp: ENST00000542497.1:c.87G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly29Gly
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: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-53594142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594142
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594142
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.86G>C
  hgvsp: ENSP00000455374.2:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.86G>C
  hgvsp: ENSP00000437375.1:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.86G>C
  hgvsp: ENSP00000345501.4:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.86G>C
  hgvsp: ENSP00000267082.4:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.86G>C
  hgvsp: ENSP00000450366.1:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+714G>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.86G>C
  hgvsp: ENSP00000456305.1:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.86G>C
  hgvsp: ENSP00000446703.2:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.86G>C
  hgvsp: ENSP00000408741.3:p.Gly29Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.139G>C
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly29Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53594144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594144
    reference: chr 12
allele count: 5
allele frequency: 4.120041530018623e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.84A>G
  hgvsp: ENST00000552935.1:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.84A>G
  hgvsp: ENST00000338737.4:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.84A>G
  hgvsp: ENST00000422257.3:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.84A>G
  hgvsp: ENST00000552972.1:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.84A>G
  hgvsp: ENST00000549086.2:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.137A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.84A>G
  hgvsp: ENST00000267082.5:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.84A>G
  hgvsp: ENST00000542497.1:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.84A>G
  hgvsp: ENST00000550743.2:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+712A>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr28Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-53594145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594145
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594145
    reference: chr 12
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.83C>T
  hgvsp: ENSP00000455374.2:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.83C>T
  hgvsp: ENSP00000345501.4:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.83C>T
  hgvsp: ENSP00000446703.2:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.83C>T
  hgvsp: ENSP00000267082.4:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.83C>T
  hgvsp: ENSP00000450366.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.83C>T
  hgvsp: ENSP00000456305.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.83C>T
  hgvsp: ENSP00000408741.3:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.83C>T
  hgvsp: ENSP00000437375.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+711C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.136C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr28Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

12-53594152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594152
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594152
    reference: chr 12
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.76C>T
  hgvsp: ENSP00000345501.4:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.76C>T
  hgvsp: ENSP00000446703.2:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.76C>T
  hgvsp: ENSP00000437375.1:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.76C>T
  hgvsp: ENSP00000450366.1:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+704C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.76C>T
  hgvsp: ENSP00000456305.1:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.76C>T
  hgvsp: ENSP00000455374.2:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.129C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.76C>T
  hgvsp: ENSP00000408741.3:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.76C>T
  hgvsp: ENSP00000267082.4:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro26Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-53594157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594157
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594157
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.71A>G
  hgvsp: ENSP00000450366.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.71A>G
  hgvsp: ENSP00000437375.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.71A>G
  hgvsp: ENSP00000345501.4:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.124A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.71A>G
  hgvsp: ENSP00000456305.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.71A>G
  hgvsp: ENSP00000446703.2:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.71A>G
  hgvsp: ENSP00000267082.4:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.71A>G
  hgvsp: ENSP00000455374.2:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+699A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.71A>G
  hgvsp: ENSP00000408741.3:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys24Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-53594161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594161
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594161
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.67G>A
  hgvsp: ENSP00000446703.2:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.67G>A
  hgvsp: ENSP00000267082.4:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.67G>A
  hgvsp: ENSP00000408741.3:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.67G>A
  hgvsp: ENSP00000437375.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.120G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+695G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.67G>A
  hgvsp: ENSP00000345501.4:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.67G>A
  hgvsp: ENSP00000450366.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.67G>A
  hgvsp: ENSP00000456305.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.67G>A
  hgvsp: ENSP00000455374.2:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala23Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-53594162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594162
    reference: chr 12
allele count: 4
allele frequency: 3.295978905735003e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.119C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.66C>T
  hgvsp: ENST00000267082.5:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.66C>T
  hgvsp: ENST00000542497.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.66C>T
  hgvsp: ENST00000552935.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.66C>T
  hgvsp: ENST00000549086.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.66C>T
  hgvsp: ENST00000550743.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.66C>T
  hgvsp: ENST00000338737.4:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.66C>T
  hgvsp: ENST00000422257.3:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.66C>T
  hgvsp: ENST00000552972.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+694C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp22Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-53594174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594174
    reference: chr 12
allele count: 36
allele frequency: 2.966381015161503e-4
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.54G>A
  hgvsp: ENST00000552972.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.54G>A
  hgvsp: ENST00000422257.3:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.54G>A
  hgvsp: ENST00000338737.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.54G>A
  hgvsp: ENST00000550743.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.54G>A
  hgvsp: ENST00000552935.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+682G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.54G>A
  hgvsp: ENST00000267082.5:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.107G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.54G>A
  hgvsp: ENST00000542497.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.54G>A
  hgvsp: ENST00000549086.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu18Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-53594186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594186
    reference: chr 12
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.42G>A
  hgvsp: ENST00000267082.5:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.42G>A
  hgvsp: ENST00000550743.2:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.42G>A
  hgvsp: ENST00000549086.2:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+670G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.42G>A
  hgvsp: ENST00000552972.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.42G>A
  hgvsp: ENST00000552935.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.95G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.42G>A
  hgvsp: ENST00000338737.4:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.42G>A
  hgvsp: ENST00000542497.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.42G>A
  hgvsp: ENST00000422257.3:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu14Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-53594189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594189
    reference: chr 12
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.39C>T
  hgvsp: ENST00000542497.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+667C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.92C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.39C>T
  hgvsp: ENST00000552972.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.39C>T
  hgvsp: ENST00000338737.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.39C>T
  hgvsp: ENST00000552935.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.39C>T
  hgvsp: ENST00000267082.5:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.39C>T
  hgvsp: ENST00000549086.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.39C>T
  hgvsp: ENST00000550743.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.39C>T
  hgvsp: ENST00000422257.3:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val13Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-53594189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594189
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.39C>A
  hgvsp: ENST00000542497.1:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.92C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.39C>A
  hgvsp: ENST00000549086.2:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.39C>A
  hgvsp: ENST00000422257.3:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.39C>A
  hgvsp: ENST00000552972.1:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+667C>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.39C>A
  hgvsp: ENST00000550743.2:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.39C>A
  hgvsp: ENST00000267082.5:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.39C>A
  hgvsp: ENST00000338737.4:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.39C>A
  hgvsp: ENST00000552935.1:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val13Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53594192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594192
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.36G>A
  hgvsp: ENST00000422257.3:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.36G>A
  hgvsp: ENST00000549086.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.36G>A
  hgvsp: ENST00000552972.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.36G>A
  hgvsp: ENST00000552935.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.36G>A
  hgvsp: ENST00000550743.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+664G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.36G>A
  hgvsp: ENST00000267082.5:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.36G>A
  hgvsp: ENST00000338737.4:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.89G>A
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.36G>A
  hgvsp: ENST00000542497.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu12Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-53594196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594196
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.32T>G
  hgvsp: ENSP00000450366.1:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.32T>G
  hgvsp: ENSP00000408741.3:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.32T>G
  hgvsp: ENSP00000456305.1:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.32T>G
  hgvsp: ENSP00000455374.2:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.32T>G
  hgvsp: ENSP00000345501.4:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.32T>G
  hgvsp: ENSP00000446703.2:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.32T>G
  hgvsp: ENSP00000267082.4:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.32T>G
  hgvsp: ENSP00000437375.1:p.Leu11Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.85T>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+660T>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu11Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-53594199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594199
    reference: chr 12
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.29T>C
  hgvsp: ENSP00000456305.1:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.29T>C
  hgvsp: ENSP00000267082.4:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.29T>C
  hgvsp: ENSP00000455374.2:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.29T>C
  hgvsp: ENSP00000450366.1:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+657T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.29T>C
  hgvsp: ENSP00000408741.3:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.82T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.29T>C
  hgvsp: ENSP00000345501.4:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.29T>C
  hgvsp: ENSP00000446703.2:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.29T>C
  hgvsp: ENSP00000437375.1:p.Leu10Ser
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu10Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

12-53594202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594202
    reference: chr 12
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.26T>C
  hgvsp: ENSP00000450366.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.79T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.26T>C
  hgvsp: ENSP00000345501.4:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.26T>C
  hgvsp: ENSP00000267082.4:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.26T>C
  hgvsp: ENSP00000446703.2:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.26T>C
  hgvsp: ENSP00000455374.2:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+654T>C
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.26T>C
  hgvsp: ENSP00000456305.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.26T>C
  hgvsp: ENSP00000408741.3:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.26T>C
  hgvsp: ENSP00000437375.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val9Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-53594212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594212
    reference: chr 12
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.16A>G
  hgvsp: ENSP00000345501.4:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.16A>G
  hgvsp: ENSP00000456305.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.16A>G
  hgvsp: ENSP00000446703.2:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.69A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+644A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.16A>G
  hgvsp: ENSP00000455374.2:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.16A>G
  hgvsp: ENSP00000408741.3:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.16A>G
  hgvsp: ENSP00000267082.4:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.16A>G
  hgvsp: ENSP00000450366.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.16A>G
  hgvsp: ENSP00000437375.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met6Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53594214-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594214
    reference: chr 12
allele count: 5
allele frequency: 4.126978886376017e-5
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.14C>G
  hgvsp: ENSP00000345501.4:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.14C>G
  hgvsp: ENSP00000446703.2:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.14C>G
  hgvsp: ENSP00000267082.4:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.14C>G
  hgvsp: ENSP00000408741.3:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.14C>G
  hgvsp: ENSP00000437375.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.67C>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.14C>G
  hgvsp: ENSP00000450366.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.14C>G
  hgvsp: ENSP00000455374.2:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.14C>G
  hgvsp: ENSP00000456305.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+642C>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro5Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-53594220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594220
    reference: chr 12
allele count: 3
allele frequency: 2.479174930583102e-5
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.8C>T
  hgvsp: ENSP00000408741.3:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000455374
  ensembl transcript: ENST00000550743
  gene symbol: ITGB7
  hgvsc: ENST00000550743.2:c.8C>T
  hgvsp: ENSP00000455374.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.8C>T
  hgvsp: ENSP00000446703.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.8C>T
  hgvsp: ENSP00000437375.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.8C>T
  hgvsp: ENSP00000267082.4:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.8C>T
  hgvsp: ENSP00000456305.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+636C>T
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.8C>T
  hgvsp: ENSP00000345501.4:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.8C>T
  hgvsp: ENSP00000450366.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.61C>T
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala3Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-53594244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53594244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53594244
    reference: chr 12
allele count: 1
allele frequency: 8.37436773523599e-6
allele num: 119412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000267082
  ensembl transcript: ENST00000267082
  gene symbol: ITGB7
  hgvsc: ENST00000267082.5:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000446703
  ensembl transcript: ENST00000549086
  gene symbol: ITGB7
  hgvsc: ENST00000549086.2:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000408741
  ensembl transcript: ENST00000422257
  gene symbol: ITGB7
  hgvsc: ENST00000422257.3:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000589179
  gene symbol: ITGB7
  hgvsc: ENST00000589179.1:n.173+612A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000437375
  ensembl transcript: ENST00000542497
  gene symbol: ITGB7
  hgvsc: ENST00000542497.1:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl transcript: ENST00000549462
  gene symbol: ITGB7
  hgvsc: ENST00000549462.1:n.51-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000450366
  ensembl transcript: ENST00000552972
  gene symbol: ITGB7
  hgvsc: ENST00000552972.1:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000345501
  ensembl transcript: ENST00000338737
  gene symbol: ITGB7
  hgvsc: ENST00000338737.4:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139626
  ensembl protein: ENSP00000456305
  ensembl transcript: ENST00000552935
  gene symbol: ITGB7
  hgvsc: ENST00000552935.1:c.-3-14A>G
  variant of: http://identifiers.org/hgnc/6162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.74355e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
all individuals: 44
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31977
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 4.547e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

DP
type: SiteQuality
SIO_000300: 2.78798e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.017e0

GenotypeQuality
all individuals: 1982
bin: 1.75e1
variant carriers: 35

GenotypeQuality
all individuals: 74
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 3554
bin: 6.25e1
variant carriers: 47

GenotypeQuality
all individuals: 6292
bin: 2.25e1
variant carriers: 47

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 32

GenotypeQuality
all individuals: 378
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 30360
bin: 7.5e0
variant carriers: 25

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 9.75e1
variant carriers: 316

GenotypeQuality
all individuals: 2481
bin: 1.25e1
variant carriers: 33

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 53

GenotypeQuality
all individuals: 96
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 49

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 37

African
type: Population
allele count: 3
allele frequency: 1.239669421487603e-2
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 172
allele frequency: 2.448050099629946e-2
allele num: 7026
num of homozygotes: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.25e-1
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.771929824561403e-3
allele num: 114
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.976190476190476e-2
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 131
allele frequency: 4.04320987654321e-2
allele num: 3240
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 2.85831e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 56
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8758
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.054367745876604e-4
allele num: 3274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.02e-2

DP
type: SiteQuality
SIO_000300: 2.96923e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27915
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.400560224089636e-4
allele num: 7140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 1.58646e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.89e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.175e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 3.20459e5

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 2907
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27915
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.90625e-3
allele num: 256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.58646e2

QD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.175e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.89e-2

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 3.20459e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24987
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 999
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.358490566037736e-3
allele num: 424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 3.019e0

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.265e-1

DP
type: SiteQuality
SIO_000300: 3.63593e5

GenotypeQuality
all individuals: 24987
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1436
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.422480620155039e-4
allele num: 4128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.265e-1

DP
type: SiteQuality
SIO_000300: 3.63593e5

FS
type: SiteQuality
SIO_000300: 3.019e0

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1790
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.367614879649891e-4
allele num: 7312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.293e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 3.5894e5

FS
type: SiteQuality
SIO_000300: 4.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.35e-2

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

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

GenotypeQuality
all individuals: 18348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25643
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.377410468319559e-4
allele num: 7260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 8.875739644970414e-3
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.50085e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.58e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.281e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 2.305e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

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

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

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

GenotypeQuality
all individuals: 819
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1320
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

FS
type: SiteQuality
SIO_000300: 8.829000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 1.577768e6

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1388
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 25856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1554
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 17360
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3570
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.480750246791708e-3
allele num: 4052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.141358365543898e-4
allele num: 7244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 1.746e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.47676e5

GenotypeQuality
all individuals: 342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17166
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.45852e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 7.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2704
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30802
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.357931435212086e-4
allele num: 6884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.33e-2

FS
type: SiteQuality
SIO_000300: 8.539999999999999e0

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 2.43983e5

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.896871378910776e-4
allele num: 6904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

DP
type: SiteQuality
SIO_000300: 2.43215e5

FS
type: SiteQuality
SIO_000300: 2.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.29e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 29610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1879
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.525320317266626e-4
allele num: 6556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 2.19159e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8522
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27916
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2442
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.98e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.785e-1

DP
type: SiteQuality
SIO_000300: 2.20399e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.037e1

GenotypeQuality
all individuals: 3624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.357e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.377628e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.523157208088715e-5
allele num: 15330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.379498e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.38691e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529660109523664e-5
allele num: 65374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.717e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 2.211e0

DP
type: SiteQuality
SIO_000300: 1.445787e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.578e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37886
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 795
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.069911044538868e-3
allele num: 65426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.428387760349704e-5
allele num: 15556
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.961168856638557e-4
allele num: 10198
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: 2
allele frequency: 1.767408978437611e-4
allele num: 11316
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.459984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.179e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1683
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 1.484446e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047294002925402e-5
allele num: 65632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.494618e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 3.973e0

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43644
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.259445843828715e-4
allele num: 15880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.517619e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.81e-2

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.534445e6

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 2.843e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45623
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.325e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.539407e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 9.01e0

VQSLOD
type: SiteQuality
SIO_000300: -5.545e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
all individuals: 939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.169031462060457e-5
allele num: 16210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.831e1

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

DP
type: SiteQuality
SIO_000300: 1.544675e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46210
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.694e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.550793e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.811e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.997e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

DP
type: SiteQuality
SIO_000300: 1.55389e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6782
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.564033e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.507e0

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

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

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

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

GenotypeQuality
all individuals: 281
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.565903e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: -4.137e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 6825
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1335
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
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: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.815100154083205e-4
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.287e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.566885e6

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

GenotypeQuality
all individuals: 1635
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.015e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.131e1

DP
type: SiteQuality
SIO_000300: 1.566784e6

GenotypeQuality
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.667e-1

QD
type: SiteQuality
SIO_000300: 1.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.557e0

DP
type: SiteQuality
SIO_000300: 1.568948e6

FS
type: SiteQuality
SIO_000300: 1.928e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.838e1

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 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: 10390
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.569081e6

FS
type: SiteQuality
SIO_000300: 2.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.667e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.179e0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 47191
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 9
allele frequency: 1.350661824293904e-4
allele num: 66634
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.570608e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.5713e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 5.956e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

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

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1695
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46873
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.570866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.456e0

FS
type: SiteQuality
SIO_000300: 5.785e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.011e1

VQSLOD
type: SiteQuality
SIO_000300: -1.66e0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 4.611e0

MQRankSum
type: SiteQuality
SIO_000300: -1.205e0

VQSLOD
type: SiteQuality
SIO_000300: -1.229e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

DP
type: SiteQuality
SIO_000300: 1.570926e6

QD
type: SiteQuality
SIO_000300: 1.482e1

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

GenotypeQuality
all individuals: 6875
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.571321e6

FS
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.452e0

QD
type: SiteQuality
SIO_000300: 1.097e1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 46857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

FS
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 1.571605e6

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6890
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.898e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 4.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

DP
type: SiteQuality
SIO_000300: 1.572958e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.014e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

FS
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.573129e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

GenotypeQuality
all individuals: 1699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.573129e6

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46980
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 9.75e1
variant carriers: 117

GenotypeQuality
all individuals: 1622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 1.42488600911927e-3
allele num: 66672
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 2.886280546469117e-4
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 19
allele frequency: 1.64303009339329e-3
allele num: 11564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

DP
type: SiteQuality
SIO_000300: 1.578879e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6915
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47021
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997120921305183e-5
allele num: 66688
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.575424e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6915
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.575424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1326
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6960
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47223
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.576556e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47287
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 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: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.679e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

DP
type: SiteQuality
SIO_000300: 1.577113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47286
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 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: 66714
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.803e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.723e0

QD
type: SiteQuality
SIO_000300: 1.836e1

FS
type: SiteQuality
SIO_000300: 2.869e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

DP
type: SiteQuality
SIO_000300: 1.577261e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

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

GenotypeQuality
all individuals: 1707
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47296
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995203836930456e-5
allele num: 66720
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.577556e6

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6968
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 47314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.577247e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.101e0

VQSLOD
type: SiteQuality
SIO_000300: -3.563e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 819
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.577675e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6969
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.901e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 1.577469e6

GenotypeQuality
all individuals: 6975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47353
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 5.857e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.577851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1322
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.578018e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 1350
bin: 9.75e1
variant carriers: 36

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

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

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.172466833301288e-3
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 1.579282e6

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47378
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.307e0

DP
type: SiteQuality
SIO_000300: 1.577831e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6944
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

QD
type: SiteQuality
SIO_000300: 1.317e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.037e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.263e0

DP
type: SiteQuality
SIO_000300: 1.577675e6

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6944
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

FS
type: SiteQuality
SIO_000300: 7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.037e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.577675e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 812
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6935
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.785e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.577587e6

QD
type: SiteQuality
SIO_000300: 9.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.274e0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6928
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.577067e6

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 5.525e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

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

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47388
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.577043e6

VQSLOD
type: SiteQuality
SIO_000300: -4.737e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 1.1564e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1695
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1315
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47350
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.576568e6

MQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.561e1

FS
type: SiteQuality
SIO_000300: 1.3099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

GenotypeQuality
all individuals: 1313
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
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: 1.574117e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1315
bin: 9.75e1
variant carriers: 5

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

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47027
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.850596842510589e-4
allele num: 10388
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.614e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.197e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.573759e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6860
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1677
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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: 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: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509379509379509e-5
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.569361e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.881e0

FS
type: SiteQuality
SIO_000300: 5.981e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

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

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0